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
EPB41L2	2037	broad.mit.edu	37	6	131201289	131201289	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:131201289A>G	ENST00000337057.3	-	13	2072	c.1891T>C	c.(1891-1893)Ttg>Ctg	p.L631L	EPB41L2_ENST00000368128.2_Silent_p.L631L|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Silent_p.L30L|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Silent_p.L30L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	631	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAAACCTCCAACATTAAATTG	0.428000													8	27					0	0	0.004482	0	0
CDCA5	113130	broad.mit.edu	37	11	64846868	64846868	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64846868G>A	ENST00000275517.3	-	5	807	c.635C>T	c.(634-636)cCc>cTc	p.P212L	CDCA5_ENST00000404147.3_Missense_Mutation_p.P212L	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	212					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGTTTCTCGGGTGGTGGGGA	0.572000													14	50					0	0	0.004007	0	0
NRXN2	9379	broad.mit.edu	37	11	64421181	64421181	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64421181G>A	ENST00000265459.6	-	12	2864	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V	NRXN2_ENST00000377559.3_Intron|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Silent_p.V801V|NRXN2_ENST00000409571.1_Silent_p.V794V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	801	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGCGCAGCCGACGCGCAGGC	0.572000													4	16					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	168102837	168102837	+	Silent	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:168102837T>C	ENST00000409195.1	+	9	5024	c.4935T>C	c.(4933-4935)acT>acC	p.T1645T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1645T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1423T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1470					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						ACAGATCAACTGAATTTCATG	0.323000													13	37					0	0	0.001855	0	0
CTRC	11330	broad.mit.edu	37	1	15772186	15772186	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:15772186C>T	ENST00000375949.4	+	7	760	c.734C>T	c.(733-735)aCc>aTc	p.T245I	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	245	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGCAACACCCGCAAGAAG	0.642000													35	75					0	0	0.006999	0	0
KDM5B	10765	broad.mit.edu	37	1	202722118	202722118	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:202722118G>A	ENST00000367265.3	-	12	2780	c.1616C>T	c.(1615-1617)cCa>cTa	p.P539L	KDM5B_ENST00000367264.2_Missense_Mutation_p.P575L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	539	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAAGAGTTCTGGAGCTAGTTT	0.453000													8	64					0	0	0.004482	0	0
OR6C74	254783	broad.mit.edu	37	12	55641320	55641320	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55641320G>A	ENST00000343870.4	+	1	339	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTGTTAGTATGGCAACAGGTG	0.388000													62	163					0	0	0.003610	0	0
TPM4	7171	broad.mit.edu	37	19	16178477	16178477	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:16178477A>G	ENST00000538887.1	+	1	130	c.43A>G	c.(43-45)Aag>Gag	p.K15E	TPM4_ENST00000344824.6_Missense_Mutation_p.K15E			P67936	TPM4_HUMAN	tropomyosin 4	140					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAAGTTGGACAAGGAGAATGC	0.667000			T	ALK	ALCL								13	46					0	0	0.004007	0	0
KCNA5	3741	broad.mit.edu	37	12	5154633	5154633	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:5154633C>T	ENST00000252321.3	+	1	1549	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	440						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCATCTTCTTCCTCTTCATCG	0.587000													11	32					0	0	0.003163	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365326	128365326	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:128365326G>A	ENST00000262462.4	+	9	2619	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.D537N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.D537N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	537					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TACATCTTTAGATTTGGAAAA	0.299000													18	34					0	0	0.008871	0	0
RELN	5649	broad.mit.edu	37	7	103126644	103126644	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:103126644C>T	ENST00000424685.2	-	61	10142	c.9983_splice	c.e61+1	p.S3328_splice	RELN_ENST00000343529.5_Splice_Site_p.S3328_splice|RELN_ENST00000428762.1_Splice_Site_p.S3328_splice|RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	3328					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTTGGGTACCTTGCTCGAGT	0.488000													69	24					0	0	0.003610	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580452	120580452	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120580452G>A	ENST00000300648.6	-	44	5700	c.5688C>T	c.(5686-5688)acC>acT	p.T1896T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1896					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACCAGCTGGGTGTCTGAGC	0.622000													19	47					0	0	0.003330	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630921	74630921	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:74630921G>A	ENST00000358632.4	-	8	1646	c.951C>T	c.(949-951)ttC>ttT	p.F317F	CYP11A1_ENST00000268053.6_Silent_p.F475F|CYP11A1_ENST00000419019.2_Silent_p.F317F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	475					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CATTGATGAGGAAGATGGTCA	0.567000													89	61					0	0	0.003610	0	0
FAM193B	54540	broad.mit.edu	37	5	176958472	176958472	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:176958472G>A	ENST00000443375.2	-	7	2545	c.987C>T	c.(985-987)ctC>ctT	p.L329L	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	425										kidney(1)|large_intestine(3)	4						GCCTCGAGCGGAGCTTCTCCC	0.697000													10	8					0	0	0.001855	0	0
OR5D16	390144	broad.mit.edu	37	11	55606440	55606440	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55606440G>A	ENST00000378396.1	+	1	213	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.413000													48	93					0	0	0.003610	0	0
LGR6	59352	broad.mit.edu	37	1	202279388	202279388	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:202279388G>A	ENST00000367278.3	+	16	1559	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K	LGR6_ENST00000255432.7_Silent_p.K438K|LGR6_ENST00000439764.2_Silent_p.K351K	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	490						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTTCTTCAAGGCCTCTGGGC	0.582000													26	115					0	0	0.006320	0	0
MYH7	4625	broad.mit.edu	37	14	23896993	23896993	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23896993G>A	ENST00000355349.3	-	16	1851	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	563	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGGCTTCTGGAAGTTGGCGG	0.542000													23	62					0	0	0.002299	0	0
PEBP1	5037	broad.mit.edu	37	12	118582456	118582456	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:118582456C>T	ENST00000261313.2	+	4	764	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	138							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGCCCATCCTCAGCAACCG	0.587000													9	15					0	0	0.004482	0	0
MMP10	4319	broad.mit.edu	37	11	102650443	102650443	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102650443C>A	ENST00000279441.4	-	2	175	c.139G>T	c.(139-141)Gat>Tat	p.D47Y		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	47					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGTTTCACATCCTTTTCGAGG	0.353000													11	38					2.27111e-07	2.61765e-07	0.001368	1	0
ZNF432	9668	broad.mit.edu	37	19	52537010	52537010	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52537010A>T	ENST00000594154.1	-	5	2134	c.1922T>A	c.(1921-1923)aTt>aAt	p.I641N	ZNF432_ENST00000221315.5_Missense_Mutation_p.I641N			O94892	ZN432_HUMAN	zinc finger protein 432	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTGATGTACAATGAGATTTCT	0.403000													41	123					0	0	0.002522	0	0
PRKAG2	51422	broad.mit.edu	37	7	151262925	151262925	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:151262925T>C	ENST00000287878.4	-	12	1784	c.1280A>G	c.(1279-1281)gAg>gGg	p.E427G	PRKAG2_ENST00000433631.2_Missense_Mutation_p.E302G|PRKAG2_ENST00000492843.1_Missense_Mutation_p.E303G|PRKAG2_ENST00000418337.2_Missense_Mutation_p.E186G|PRKAG2_ENST00000392801.2_Missense_Mutation_p.E383G	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	427					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TATTCCAAGCTCATCCAGGTT	0.438000													19	165					0	0	0.001882	0	0
NLRP14	338323	broad.mit.edu	37	11	7065201	7065201	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:7065201C>T	ENST00000299481.4	+	4	2290	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	648					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAACAAGCCTCCCAACTAACA	0.473000													23	58					0	0	0.003954	0	0
SH2D7	646892	broad.mit.edu	37	15	78390783	78390783	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:78390783G>A	ENST00000328828.5	+	4	490	c.490G>A	c.(490-492)Gac>Aac	p.D164N	SH2D7_ENST00000409568.2_Missense_Mutation_p.D28N	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	164										endometrium(2)|kidney(2)|lung(3)	7						GACCATCGTGGACCCAGAAAA	0.617000													57	38					0	0	0.003610	0	0
NOL10	79954	broad.mit.edu	37	2	10712246	10712246	+	Missense_Mutation	SNP	G	G	A	rs142436125		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:10712246G>A	ENST00000345985.3	-	20	1978	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	NOL10_ENST00000538384.1_Missense_Mutation_p.S647L|NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000381685.5_Missense_Mutation_p.S673L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	673						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTGTCCGGCCGAACGACGGAG	0.483000													70	171					0	0	0.003610	0	0
ZNF112	7665	broad.mit.edu	37	19	44831861	44831861	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:44831861G>A	ENST00000354340.4	-	4	2500	c.2449C>T	c.(2449-2451)Cat>Tat	p.H817Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.H840Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H823Y	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACTCTGTGATGGGCTTGAAGA	0.473000													37	114					0	0	0.006230	0	0
LMO7	4008	broad.mit.edu	37	13	76382250	76382250	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:76382250C>T	ENST00000357063.3	+	11	3247	c.1987C>T	c.(1987-1989)Ccc>Tcc	p.P663S	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.P378S|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.P378S|LMO7_ENST00000377534.3_Missense_Mutation_p.P663S			Q8WWI1	LMO7_HUMAN	LIM domain 7	663						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CACCCCTGGCCCCTGCAGTGA	0.532000													6	32					0	0	0.001168	0	0
PCDH15	65217	broad.mit.edu	37	10	55582354	55582354	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:55582354G>A	ENST00000361849.3	-	34	5532	c.5138C>T	c.(5137-5139)tCa>tTa	p.S1713L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1711L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1708L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1688L|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1642L|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1671L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1711					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)				CCTAGAGAGTGAAGAATGTAA	0.398000										HNSCC(58;0.16)			10	17					0	0	0.006214	0	0
PRR23B	389151	broad.mit.edu	37	3	138739050	138739050	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:138739050C>T	ENST00000329447.5	-	1	718	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	152										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGGCCTCTTCCTGGGCGGCG	0.647000													22	51					0	0	0.002299	0	0
SCN5A	6331	broad.mit.edu	37	3	38622442	38622442	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38622442C>T	ENST00000413689.1	-	17	3401	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	SCN5A_ENST00000333535.4_Missense_Mutation_p.E1070K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1070K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1070K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1070					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACTCCTCCTCCGTGCCCAGG	0.627000													11	42					0	0	0.000978	0	0
ABAT	18	broad.mit.edu	37	16	8862722	8862722	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:8862722C>T	ENST00000396600.2	+	11	1646	c.708C>T	c.(706-708)atC>atT	p.I236I	ABAT_ENST00000567812.1_Silent_p.I251I|ABAT_ENST00000569156.1_Silent_p.I236I|ABAT_ENST00000425191.2_Silent_p.I236I|ABAT_ENST00000268251.8_Silent_p.I236I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	236					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTCACAAGATCGACATCCCTT	0.532000													76	94					0	0	0.003610	0	0
CPED1	79974	broad.mit.edu	37	7	120935629	120935629	+	Missense_Mutation	SNP	C	C	T	rs147434701	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:120935629C>T	ENST00000310396.5	+	23	3471	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCGCCATATCATGTCAGAGG	0.378000													69	29					0	0	0.003610	0	0
RTTN	25914	broad.mit.edu	37	18	67692058	67692058	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:67692058G>A	ENST00000255674.6	-	44	6136	c.5850C>T	c.(5848-5850)gtC>gtT	p.V1950V	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1950							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCAAGACAGGGACAAGGTGAG	0.378000													18	30					0	0	0.007413	0	0
PRPF6	24148	broad.mit.edu	37	20	62658990	62658990	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:62658990T>G	ENST00000535781.1	+	16	2231	c.2120T>G	c.(2119-2121)cTt>cGt	p.L707R	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	747					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCCCTGTGGCTTTTGCTCTCT	0.542000													18	183					0	0	0.007413	0	0
PTPN6	5777	broad.mit.edu	37	12	7064084	7064084	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7064084C>T	ENST00000456013.1	+	4	685	c.443C>T	c.(442-444)tCt>tTt	p.S148F	PTPN6_ENST00000447931.2_Missense_Mutation_p.S109F|PTPN6_ENST00000399448.1_Missense_Mutation_p.S150F|PTPN6_ENST00000318974.9_Missense_Mutation_p.S148F	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	148	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TTCGTGCTTTCTGTGCTCAGT	0.657000													24	67					0	0	0.004656	0	0
PRIM1	5557	broad.mit.edu	37	12	57132269	57132269	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:57132269C>T	ENST00000338193.6	-	11	1129	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	365					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TCTTTTTCCTCTTCATTAGTG	0.358000													4	6					0	0	0.000602	0	0
SLC7A9	11136	broad.mit.edu	37	19	33324075	33324075	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:33324075C>T	ENST00000023064.4	-	12	1570	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	SLC7A9_ENST00000590341.1_Missense_Mutation_p.G460E|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G460E	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	460					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTGAGCCCATCCAAACTTGTA	0.507000													30	74					0	0	0.008361	0	0
AGBL4	84871	broad.mit.edu	37	1	49332876	49332876	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:49332876C>T	ENST00000371839.1	-	6	737	c.621G>A	c.(619-621)acG>acA	p.T207T	AGBL4_ENST00000371836.1_Silent_p.T207T|AGBL4_ENST00000371838.1_Silent_p.T207T	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	207					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GGCTGGTTATCGTCAGGAGGT	0.488000													9	30					0	0	0.008291	0	0
MYH13	8735	broad.mit.edu	37	17	10253951	10253951	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10253951C>T	ENST00000418404.3	-	11	1229	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	MYH13_ENST00000570743.1_Missense_Mutation_p.G356R|MYH13_ENST00000252172.4_Missense_Mutation_p.G356R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	356	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATCACGGCTCCCGTCAGTTTG	0.512000													11	67					0	0	0.000978	0	0
VWA3B	200403	broad.mit.edu	37	2	98853161	98853161	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:98853161G>A	ENST00000477737.1	+	19	2845	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	881										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCCGTCCTGGACAAGCATGT	0.488000													58	146					0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60193935	60193935	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:60193935C>T	ENST00000267484.5	-	3	1802	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	489					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGCTTCATCGGGGGTGAGT	0.721000													3	6					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9049121	9049121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9049121C>T	ENST00000397910.4	-	5	32713	c.32510G>A	c.(32509-32511)tGg>tAg	p.W10837*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10839	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						GGAAGTTGTCCAGGGAACTGT	0.473000													39	95					0	0	0.004878	0	0
PDC	5132	broad.mit.edu	37	1	186415681	186415681	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186415681T>A	ENST00000391997.2	-	3	177	c.90A>T	c.(88-90)agA>agT	p.R30S	PDC_ENST00000497198.1_5'UTR|PDC_ENST00000340129.5_Missense_Mutation_p.R30S	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	30					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ATTTAAACTTTCTCCAATCAT	0.333000													12	45					0	0	0.002450	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20527462	20527462	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:20527462C>T	ENST00000202677.6	-	24	3313	c.3171G>A	c.(3169-3171)acG>acA	p.T1057T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1057					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCCTTATGATCGTATTTAAGA	0.443000													5	31					0	0	0.000602	0	0
MYH8	4626	broad.mit.edu	37	17	10297626	10297626	+	Silent	SNP	C	C	T	rs140525529		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10297626C>T	ENST00000403437.2	-	35	5200	c.5106G>A	c.(5104-5106)agG>agA	p.R1702R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1702					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1702R(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCGATTTTCCTGCTTCTCT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	45					0	0	0.009535	0	0
ENAM	10117	broad.mit.edu	37	4	71509241	71509241	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:71509241C>T	ENST00000396073.3	+	9	2379	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	700					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGGAATATCTTCCCTATTC	0.388000													10	45					0	0	0.008291	0	0
COL4A1	1282	broad.mit.edu	37	13	110831369	110831369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:110831369G>A	ENST00000375820.4	-	31	2480	c.2359C>T	c.(2359-2361)Cct>Tct	p.P787S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	787	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCAATCCAGGAGGTCCCGGT	0.622000													4	16					0	0	0.000602	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964396	69964396	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69964396C>T	ENST00000305231.7	+	2	906	c.860C>T	c.(859-861)cCc>cTc	p.P287L	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P287L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	287					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGCCAAACCCCTGCCTAAG	0.373000													18	134					0	0	0.008871	0	0
IQCH	64799	broad.mit.edu	37	15	67664767	67664767	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:67664767C>T	ENST00000335894.4	+	9	1138	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	IQCH_ENST00000360277.4_Missense_Mutation_p.L110F|IQCH_ENST00000546225.1_Missense_Mutation_p.L106F|IQCH_ENST00000358767.3_Missense_Mutation_p.L185F	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	358										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCTGATAAATCTTCCAGGGCA	0.468000													30	141					0	0	0.008361	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209294	71209294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:71209294C>T	ENST00000554752.2	-	6	1340	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.W447*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.W184*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.W141*|MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.W447*			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	447	Leucine-zipper 1.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCTCCTCCTCCCAGGTGCGAA	0.637000													11	17					0	0	0.001368	0	0
CCDC73	493860	broad.mit.edu	37	11	32636355	32636355	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:32636355C>T	ENST00000335185.5	-	16	1552	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	503										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCGTAACATTCGAGGTTTGTC	0.323000													22	60					0	0	0.001882	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887392	12887392	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12887392G>A	ENST00000535591.1	-	3	660	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	155										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGATGCTTCTGATATTGCGGA	0.468000													105	261					0	0	0.003610	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955718	18955718	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18955718C>T	ENST00000302797.3	-	1	838	c.614G>A	c.(613-615)gGa>gAa	p.G205E	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	205					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCCGGGATCCACAGAGAAT	0.512000													11	37					0	0	0.001368	0	0
LOC286059	286059	broad.mit.edu	37	8	22938908	22938908	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:22938908G>A	ENST00000501897.1	+	0	412					NR_038873.1																						ATCCCTTCAGGAAACCAGAGC	0.478000													6	16					0	0	0.001984	0	0
PLCH1	23007	broad.mit.edu	37	3	155222400	155222400	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155222400C>T	ENST00000460012.1	-	13	1915	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	PLCH1_ENST00000494598.1_Missense_Mutation_p.E538K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E520K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E538K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E520K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E538K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	538					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTCCACTTTCCTTTACATCT	0.343000													20	45					0	0	0.002299	0	0
GRID1	2894	broad.mit.edu	37	10	87966200	87966200	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:87966200G>A	ENST00000327946.7	-	3	526	c.441C>T	c.(439-441)gtC>gtT	p.V147V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	147						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CATTGAGGCGGACGGGTGGTC	0.622000										Multiple Myeloma(13;0.14)			20	20					0	0	0.010504	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509322	156509322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156509322G>A	ENST00000361170.2	-	25	2910	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	967					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGTAGATGGGCTGAGTCTG	0.507000													15	37					0	0	0.003163	0	0
LZTS3	9762	broad.mit.edu	37	20	3147713	3147713	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:3147713G>A	ENST00000329152.3	-	1	1494	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	LZTS3_ENST00000337576.5_Missense_Mutation_p.P33S|LZTS3_ENST00000360342.3_Missense_Mutation_p.P33S	NM_014731.2	NP_055546.1																					GCCAGGCGGGGGTCCGGGGGT	0.711000													4	11					0	0	0.001168	0	0
AIFM2	84883	broad.mit.edu	37	10	71874039	71874039	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:71874039G>A	ENST00000307864.1	-	9	1230	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	AIFM2_ENST00000373248.1_Silent_p.G339G	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	339					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CACTGATTTGGCCCACACCGT	0.577000													22	15					0	0	0.001882	0	0
DNAH17	8632	broad.mit.edu	37	17	76498999	76498999	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:76498999C>T	ENST00000389840.5	-	32	5163	c.5039G>A	c.(5038-5040)aGg>aAg	p.R1680K	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1681K|DNAH17-AS1_ENST00000598378.1_3'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACTGCTCCCTCGGCTTCTC	0.627000													4	29					0	0	0.000602	0	0
NLRP5	126206	broad.mit.edu	37	19	56539225	56539225	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56539225G>A	ENST00000390649.3	+	7	1626	c.1626G>A	c.(1624-1626)agG>agA	p.R542R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	542	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGGAATAGGAAGTCAGTGT	0.562000													8	27					0	0	0.004482	0	0
TMEM205	374882	broad.mit.edu	37	19	11453736	11453736	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:11453736G>A	ENST00000354882.5	-	3	751	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	TMEM205_ENST00000588560.1_Missense_Mutation_p.R109C|TMEM205_ENST00000447337.1_Missense_Mutation_p.R109C|TMEM205_ENST00000593256.2_Missense_Mutation_p.R109C|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Missense_Mutation_p.R109C|TMEM205_ENST00000586956.1_Missense_Mutation_p.R109C|TMEM205_ENST00000586590.1_Missense_Mutation_p.R109C|TMEM205_ENST00000586218.1_Missense_Mutation_p.R48C|TMEM205_ENST00000589555.1_Missense_Mutation_p.R109C			Q6UW68	TM205_HUMAN	transmembrane protein 205	109						integral to membrane				endometrium(1)|lung(1)	2						GCTGTGGTGCGGGGTTCCAGC	0.657000													22	59					0	0	0.003954	0	0
NUTM1	256646	broad.mit.edu	37	15	34649616	34649616	+	Missense_Mutation	SNP	G	G	A	rs138691157	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:34649616G>A	ENST00000537011.1	+	8	3789	c.3407G>A	c.(3406-3408)cGa>cAa	p.R1136Q	NUTM1_ENST00000438749.3_Missense_Mutation_p.R1126Q|NUTM1_ENST00000333756.4_Missense_Mutation_p.R1108Q					NUT midline carcinoma, family member 1																		GGAGTAGTTCGACCCTCACAG	0.587000													16	51					0	0	0.007413	0	0
BRCA2	675	broad.mit.edu	37	13	32929059	32929059	+	Silent	SNP	C	C	T	rs80359636		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:32929059C>T	ENST00000544455.1	+	14	7296	c.7069C>T	c.(7069-7071)Ctg>Ttg	p.L2357L	BRCA2_ENST00000380152.3_Silent_p.L2357L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2357	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGAATTTCTGTCTAAATC	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			19	22					0	0	0.008871	0	0
SCN2A	6326	broad.mit.edu	37	2	166243496	166243496	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166243496G>A	ENST00000357398.3	+	26	5082	c.4792G>A	c.(4792-4794)Gat>Aat	p.D1598N	SCN2A_ENST00000375437.2_Missense_Mutation_p.D1598N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1598N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1598N			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1598					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATATTTTTGATTTTGTGGT	0.338000													20	67					0	0	0.002299	0	0
WNK1	65125	broad.mit.edu	37	12	988837	988837	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:988837C>T	ENST00000315939.6	+	11	3115	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	WNK1_ENST00000530271.2_Silent_p.F1322F|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Silent_p.F417F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	824					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGCTCATTTCCTTCCAGTGG	0.542000													26	78					0	0	0.004656	0	0
BTNL3	10917	broad.mit.edu	37	5	180432655	180432655	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:180432655T>G	ENST00000342868.6	+	8	1368	c.1184T>G	c.(1183-1185)tTt>tGt	p.F395C		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	395	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AATCCCCATTTTATCAGCCTC	0.488000													10	42					0	0	0.000978	0	0
UBA6	55236	broad.mit.edu	37	4	68547871	68547871	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:68547871G>A	ENST00000322244.4	-	3	254	c.195C>T	c.(193-195)ttC>ttT	p.F65F	UBA6_ENST00000420827.2_Silent_p.F65F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	65					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCCCACTTAAGAAAACATGGG	0.348000													16	44					0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196891640	196891640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196891640C>T	ENST00000312428.6	-	7	611	c.511G>A	c.(511-513)Gga>Aga	p.G171R	DNAH7_ENST00000410072.1_Missense_Mutation_p.G171R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	171	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTATCAATTCCATGGTGAATA	0.333000													11	30					0	0	0.001855	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569505	76569505	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:76569505T>A	ENST00000307431.8	+	19	3201	c.2816T>A	c.(2815-2817)aTg>aAg	p.M939K	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M943K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M891K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M867K|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	940	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGAATGGGATGACCCTGGAT	0.517000													25	29					0	0	0.006320	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188286	140188286	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140188286C>T	ENST00000530339.1	+	1	1514	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S505L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S505L	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGCTGTCGAGCTACGTT	0.657000													23	42					0	0	0.002299	0	0
OR7C2	26658	broad.mit.edu	37	19	15053166	15053166	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15053166A>T	ENST00000248072.3	+	1	866	c.866A>T	c.(865-867)tAc>tTc	p.Y289F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CCCTTCATCTACAGCCTGAGG	0.537000													26	73					0	0	0.003954	0	0
PRKG2	5593	broad.mit.edu	37	4	82070042	82070042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:82070042G>A	ENST00000395578.1	-	9	1266	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R384*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R384*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	384					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACTCACTCTCGATCTATAACC	0.418000													27	138					0	0	0.006320	0	0
ZNF688	146542	broad.mit.edu	37	16	30583484	30583484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:30583484G>A	ENST00000395219.1	-	1	244	c.113C>T	c.(112-114)tCg>tTg	p.S38L	ZNF688_ENST00000223459.6_5'UTR	NM_001024683.1	NP_001019854.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GATTGGCGACGATCCCGGAAG	0.592000													26	30					0	0	0.008361	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237111	30237111	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:30237111G>A	ENST00000378988.4	+	2	515	c.414G>A	c.(412-414)ctG>ctA	p.L138L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	138	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGAAATGCTGAAAATTGTTG	0.458000													6	6					0	0	0.001168	0	0
NPY	4852	broad.mit.edu	37	7	24329192	24329192	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:24329192G>A	ENST00000407573.1	+	4	553	c.263G>A	c.(262-264)aGa>aAa	p.R88K	NPY_ENST00000242152.2_Missense_Mutation_p.R88K|NPY_ENST00000405982.1_Missense_Mutation_p.R88K			P01303	NPY_HUMAN	neuropeptide Y	88					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						AATGTTCCCAGAACTCGGTAT	0.488000													14	46					0	0	0.004007	0	0
OR1J2	26740	broad.mit.edu	37	9	125273643	125273643	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125273643C>T	ENST00000335302.5	+	1	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTCAAGCTGTCCTGCTCAGAT	0.522000													29	39					0	0	0.006320	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20569971	20569971	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:20569971C>T	ENST00000202677.6	-	18	2522	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	794					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCTGAGGCTCTGAAGAACTC	0.393000													6	10					0	0	0.001168	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530564	125530564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:125530564C>T	ENST00000431078.1	+	17	3083	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	907	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCCATTTTCGACTGCAGCT	0.537000													46	107					0	0	0.003610	0	0
BCL9L	283149	broad.mit.edu	37	11	118770888	118770888	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118770888G>A	ENST00000334801.3	-	7	4108	c.3144C>T	c.(3142-3144)ggC>ggT	p.G1048G	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1048	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCTCCGGGGGCCGCTAGGCG	0.627000													21	32					0	0	0.001882	0	0
TMEM205	374882	broad.mit.edu	37	19	11453737	11453737	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:11453737G>A	ENST00000354882.5	-	3	750	c.324C>T	c.(322-324)ccC>ccT	p.P108P	TMEM205_ENST00000588560.1_Silent_p.P108P|TMEM205_ENST00000447337.1_Silent_p.P108P|TMEM205_ENST00000593256.2_Silent_p.P108P|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Silent_p.P108P|TMEM205_ENST00000586956.1_Silent_p.P108P|TMEM205_ENST00000586590.1_Silent_p.P108P|TMEM205_ENST00000586218.1_Silent_p.P47P|TMEM205_ENST00000589555.1_Silent_p.P108P			Q6UW68	TM205_HUMAN	transmembrane protein 205	108						integral to membrane				endometrium(1)|lung(1)	2						CTGTGGTGCGGGGTTCCAGCC	0.657000													22	59					0	0	0.003954	0	0
EXTL1	2134	broad.mit.edu	37	1	26361663	26361663	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:26361663G>A	ENST00000374280.3	+	11	2723	c.1856G>A	c.(1855-1857)gGg>gAg	p.G619E		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	619					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGCGCCTGGGGGCCCGGGG	0.622000													37	61					0	0	0.002852	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997402	59997402	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:59997402T>C	ENST00000528394.1	-	1	126	c.127A>G	c.(127-129)Aaa>Gaa	p.K43E	MS4A4E_ENST00000398986.2_Missense_Mutation_p.K43E|MS4A4E_ENST00000526086.1_Missense_Mutation_p.K43E|MS4A4E_ENST00000425663.1_Missense_Mutation_p.K43E|MS4A4E_ENST00000427611.2_Silent_p.G18G|MS4A4E_ENST00000398984.2_Missense_Mutation_p.K43E					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						ACTTTGGGTTTCCTCTTGAAG	0.458000													7	13					0	0	0.001984	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585060	120585060	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120585060G>A	ENST00000300648.6	-	38	4755	c.4743C>T	c.(4741-4743)ctC>ctT	p.L1581L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1581					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCATCCAGGAGGACTGGAG	0.557000													35	28					0	0	0.003271	0	0
GJB4	127534	broad.mit.edu	37	1	35227176	35227176	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:35227176G>A	ENST00000339480.1	+	2	691	c.321G>A	c.(319-321)ctG>ctA	p.L107L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	107					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCACCACCTGAAACACGGGC	0.642000													23	30					0	0	0.002299	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760723	15760723	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15760723G>A	ENST00000221307.7	+	7	696	c.647_splice	c.e7-1	p.E216_splice	CYP4F3_ENST00000586182.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000585846.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000591058.1_Splice_Site_p.E216_splice	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	216					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TATCCTGCAGGAAGCCCAGTG	0.493000													52	126					0	0	0.003610	0	0
SQLE	6713	broad.mit.edu	37	8	126017848	126017848	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:126017848C>T	ENST00000265896.5	+	3	1524	c.626C>T	c.(625-627)cCt>cTt	p.P209L	SQLE_ENST00000523430.1_Missense_Mutation_p.P114L	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GTTCAGATTCCTTACCCTCTG	0.453000													40	76					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179473616	179473616	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179473616G>A	ENST00000589042.1	-	274	52346	c.52122C>T	c.(52120-52122)atC>atT	p.I17374I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.I8434I|TTN_ENST00000342992.6_Silent_p.I14806I|TTN_ENST00000460472.2_Silent_p.I8309I|TTN_ENST00000342175.6_Silent_p.I8501I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.I15733I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15733	Fibronectin type-III 26.						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)			ATACAAAGTTGATTGGTGGTC	0.383000													39	105					0	0	0.002522	0	0
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27858050C>T	ENST00000264718.3	+	7	536	c.515C>T	c.(514-516)tCg>tTg	p.S172L	GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000461249.1_3'UTR	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448000													19	43					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9074179	9074179	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9074179A>T	ENST00000397910.4	-	3	13470	c.13267T>A	c.(13267-13269)Ttt>Att	p.F4423I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4425	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						GATTGCATAAAATCTGGAGTC	0.498000													56	124					0	0	0.003610	0	0
ZFP64	55734	broad.mit.edu	37	20	50701142	50701142	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:50701142G>A	ENST00000361387.2	-	9	1952	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.S412F	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCCCCACGGAGACCAGGGT	0.597000													32	41					0	0	0.004878	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060704	58060704	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:58060704C>T	ENST00000556826.1	-	2	478	c.242G>A	c.(241-243)gGa>gAa	p.G81E	SLC35F4_ENST00000339762.6_Missense_Mutation_p.G117E|SLC35F4_ENST00000554729.1_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						TCCTGAGGATCCTTGGTTTTG	0.468000													21	39					0	0	0.002780	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664489	169664489	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:169664489C>T	ENST00000483289.2	-	0	2805				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CATACTTTTTCCTCTGCAAGG	0.522000													15	36					0	0	0.003163	0	0
HMCN1	83872	broad.mit.edu	37	1	186086187	186086187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186086187G>A	ENST00000271588.4	+	76	11852	c.11623G>A	c.(11623-11625)Gaa>Aaa	p.E3875K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3875K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3875	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAACCTATGAATGTACTGT	0.403000													34	43					0	0	0.002836	0	0
DDC	1644	broad.mit.edu	37	7	50605573	50605573	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:50605573C>T	ENST00000444124.2	-	4	620	c.420G>A	c.(418-420)ggG>ggA	p.G140G	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.G140G|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.G140G|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.G140G	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	140	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCACTCCTCCCCCTTCTCCAG	0.552000													18	55					0	0	0.007413	0	0
MYH13	8735	broad.mit.edu	37	17	10233724	10233724	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10233724G>A	ENST00000418404.3	-	20	2578	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	MYH13_ENST00000570743.1_Silent_p.F805F|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F805F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	805	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATCTTCTTGAACTCCACCC	0.552000													5	22					0	0	0.001168	0	0
KIF21B	23046	broad.mit.edu	37	1	200973910	200973910	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:200973910G>A	ENST00000332129.2	-	6	1200	c.884C>T	c.(883-885)tCc>tTc	p.S295F	KIF21B_ENST00000360529.5_Missense_Mutation_p.S295F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S295F|KIF21B_ENST00000422435.2_Missense_Mutation_p.S295F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	295	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACAGTTGATGGAGATGCCCTC	0.607000													18	26					0	0	0.002299	0	0
PPM1H	57460	broad.mit.edu	37	12	63226043	63226043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:63226043T>A	ENST00000228705.6	-	2	562	c.262A>T	c.(262-264)Aag>Tag	p.K88*		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	88							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGTGTGCTCTTCCCGGCATTG	0.542000													5	22					0	0	0.001168	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972234	101972234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:101972234C>T	ENST00000543253.1	+	5	3356	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	GPRASP2_ENST00000535209.1_Missense_Mutation_p.R813C|GPRASP2_ENST00000332262.5_Missense_Mutation_p.R813C	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCTGCATTTCGTGAATTTGA	0.358000													63	41					0	0	0.003610	0	0
TELO2	9894	broad.mit.edu	37	16	1557342	1557342	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:1557342C>T	ENST00000262319.6	+	19	2541	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	754						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGCTGGAATTCGTGTGGGCCC	0.672000													9	17					0	0	0.006214	0	0
GPR39	2863	broad.mit.edu	37	2	133402928	133402928	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:133402928G>A	ENST00000329321.3	+	2	1580	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	371						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCCAACCACGAGAAGCGCCT	0.667000													20	40					0	0	0.007413	0	0
VPREB1	7441	broad.mit.edu	37	22	22599436	22599436	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:22599436C>T	ENST00000403807.3	+	2	264	c.125C>T	c.(124-126)aCc>aTc	p.T42I	VPREB1_ENST00000302273.2_Missense_Mutation_p.T41I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	42	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CTCACCTGCACCCTGAGGAAC	0.597000													35	67					0	0	0.006230	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559045	1559045	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:1559045C>T	ENST00000381605.4	-	2	436	c.372G>A	c.(370-372)cgG>cgA	p.R124R	SIRPB1_ENST00000262929.5_Silent_p.R123R|RP4-576H24.4_ENST00000564763.1_Silent_p.R124R|SIRPB1_ENST00000381603.3_Silent_p.R124R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCA	0.547000													66	120					0	0	0.003610	0	0
PNPLA1	285848	broad.mit.edu	37	6	36274124	36274124	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:36274124G>A	ENST00000394571.2	+	7	1440	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	PNPLA1_ENST00000312917.5_Silent_p.V394V|PNPLA1_ENST00000388715.3_Silent_p.V385V	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	480					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TGGTTCATGTGAAGGAAACCG	0.493000													33	78					0	0	0.004878	0	0
VPS72	6944	broad.mit.edu	37	1	151150580	151150580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151150580G>A	ENST00000354473.4	-	5	640	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	202					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCTTCTTATGAACCTGCTTC	0.493000													10	50					0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13721305	13721305	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13721305A>C	ENST00000265104.4	-	71	12187	c.12083T>G	c.(12082-12084)gTt>gGt	p.V4028G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4028	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTAAAATAACACCTTCGGC	0.473000									Kartagener syndrome				24	47					0	0	0.005443	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676294	20676294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:20676294G>A	ENST00000525748.1	+	16	2547	c.2274G>A	c.(2272-2274)tgG>tgA	p.W758*	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	758					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCCGGACTGGGGCCCATTCT	0.557000													41	78					0	0	0.002522	0	0
REG3G	130120	broad.mit.edu	37	2	79255393	79255393	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:79255393C>T	ENST00000272324.5	+	6	703	c.519C>T	c.(517-519)ttC>ttT	p.F173F	REG3G_ENST00000393897.2_Silent_p.F173F|REG3G_ENST00000409471.1_Silent_p.F127F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	173					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGCAAGTTCAAGGACTAGG	0.478000													20	54					0	0	0.001882	0	0
RLF	6018	broad.mit.edu	37	1	40705671	40705671	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:40705671C>T	ENST00000372771.4	+	8	5324	c.5297C>T	c.(5296-5298)cCt>cTt	p.P1766L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1766					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACTTACAAACCTATGGGATTT	0.363000													21	35					0	0	0.010504	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126554	37126554	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:37126554C>T	ENST00000336755.5	+	2	331	c.225C>T	c.(223-225)atC>atT	p.I75I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Silent_p.I74I	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	75							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AGAAGCTAATCGTCCTTTCAG	0.408000													55	62					0	0	0.003610	0	0
ATP10B	23120	broad.mit.edu	37	5	160063277	160063277	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:160063277G>A	ENST00000327245.5	-	11	1886	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	347					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACATCGAAGGGAGGGTGTTC	0.512000													20	55					0	0	0.001882	0	0
DNAH3	55567	broad.mit.edu	37	16	20975497	20975497	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:20975497C>T	ENST00000261383.3	-	53	9708	c.9709G>A	c.(9709-9711)Gaa>Aaa	p.E3237K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3237	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTCAATTTCCTTGAGATGC	0.468000													49	60					0	0	0.003610	0	0
YLPM1	56252	broad.mit.edu	37	14	75265512	75265512	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:75265512C>T	ENST00000325680.7	+	5	3636	c.3512C>T	c.(3511-3513)cCa>cTa	p.P1171L	YLPM1_ENST00000238571.3_Missense_Mutation_p.P976L|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	976	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCATTCAGACCAGAACCAGGA	0.542000													13	43					0	0	0.002450	0	0
CHRDL2	25884	broad.mit.edu	37	11	74424495	74424495	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:74424495G>A	ENST00000376332.3	-	3	721	c.225C>T	c.(223-225)caC>caT	p.H75H	CHRDL2_ENST00000263671.5_Silent_p.H75H|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	75	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGCGGACAGTGGAGGCGGT	0.592000													18	40					0	0	0.010504	0	0
PTK2B	2185	broad.mit.edu	37	8	27278190	27278190	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:27278190C>T	ENST00000397501.1	+	9	1208	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PTK2B_ENST00000346049.5_Missense_Mutation_p.R134C|PTK2B_ENST00000338238.4_Missense_Mutation_p.R134C|PTK2B_ENST00000420218.2_Missense_Mutation_p.R134C|PTK2B_ENST00000517339.1_Missense_Mutation_p.R134C|PTK2B_ENST00000544172.1_Missense_Mutation_p.R134C	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	134	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCTTCAAATCCGCTACTTGCC	0.493000													32	75					0	0	0.006230	0	0
DERL1	79139	broad.mit.edu	37	8	124033698	124033698	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124033698G>A	ENST00000259512.4	-	6	795	c.495C>T	c.(493-495)atC>atT	p.I165I	DERL1_ENST00000523036.1_Silent_p.I65I|DERL1_ENST00000419562.2_Silent_p.I65I|DERL1_ENST00000519018.1_Silent_p.I65I|DERL1_ENST00000405944.3_Silent_p.I165I|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	165					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGCCTCCGATGATATAGTTGA	0.363000													28	68					0	0	0.009535	0	0
EYA1	2138	broad.mit.edu	37	8	72127689	72127689	+	Silent	SNP	C	C	T	rs147434089		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:72127689C>T	ENST00000340726.3	-	16	2169	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	EYA1_ENST00000388743.2_Silent_p.A509A|EYA1_ENST00000388742.4_Silent_p.A510A|EYA1_ENST00000388740.3_Silent_p.A477A|EYA1_ENST00000419131.1_Silent_p.A475A|EYA1_ENST00000303824.7_Silent_p.A504A|EYA1_ENST00000388741.2_Silent_p.A476A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	510					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCAGGACTTTCGCCAATGCTG	0.338000													31	66					0	0	0.005524	0	0
NOS1	4842	broad.mit.edu	37	12	117768659	117768659	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117768659C>T	ENST00000317775.6	-	2	901	c.216G>A	c.(214-216)ttG>ttA	p.L72L	NOS1_ENST00000338101.4_Silent_p.L72L|NOS1_ENST00000344089.3_Silent_p.L72L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	72	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAGGTCCACCAAGGGCCGGC	0.622000													21	12					0	0	0.008871	0	0
NMBR	4829	broad.mit.edu	37	6	142399727	142399727	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:142399727G>A	ENST00000258042.1	-	2	876	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	246					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCTCCAGGAAGATTGTGTGCG	0.353000													9	33					0	0	0.004482	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515906	41515906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:41515906C>T	ENST00000324071.4	+	6	837	c.830C>T	c.(829-831)tCc>tTc	p.S277F	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	277					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAGGAGAAATCCAACGCACAC	0.592000													24	40					0	0	0.004656	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235782	37235782	+	Silent	SNP	G	G	A	rs139581322		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:37235782G>A	ENST00000233099.5	-	28	4589	c.4494C>T	c.(4492-4494)gcC>gcT	p.A1498A	HEATR5B_ENST00000354531.2_Silent_p.A1498A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1498							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAGAAAATTCGGCTGGTAAAG	0.383000													15	46					0	0	0.003163	0	0
LEPREL4	10609	broad.mit.edu	37	17	39959569	39959569	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39959569G>A	ENST00000355468.3	-	8	1727	c.1261C>T	c.(1261-1263)Ccg>Tcg	p.P421S	LEPREL4_ENST00000393928.1_Missense_Mutation_p.P421S			Q92791	SC65_HUMAN	leprecan-like 4	421	Asp/Glu-rich (acidic).				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTGGCATCCGGCTCCTGCCAC	0.632000													12	36					0	0	0.003163	0	0
INO80B	83444	broad.mit.edu	37	2	74684951	74684951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74684951G>A	ENST00000233331.7	+	5	1125	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	344					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ATGCGGCTGGGGGGGCCCGAG	0.662000													16	34					0	0	0.006122	0	0
DNAH7	56171	broad.mit.edu	37	2	196774764	196774764	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196774764C>T	ENST00000312428.6	-	25	4191	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1364	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAATTTTCCCAAAGCCAA	0.358000													23	38					0	0	0.003330	0	0
GREB1	9687	broad.mit.edu	37	2	11706631	11706631	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11706631G>A	ENST00000381486.2	+	4	603	c.303G>A	c.(301-303)ctG>ctA	p.L101L	GREB1_ENST00000234142.5_Silent_p.L101L|GREB1_ENST00000263834.5_Silent_p.L101L|GREB1_ENST00000381483.2_Silent_p.L101L|GREB1_ENST00000389825.3_5'UTR	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	101						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGAAGGACCTGCGCCTTGTCT	0.642000													23	43					0	0	0.003330	0	0
XIRP2	129446	broad.mit.edu	37	2	168099418	168099418	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:168099418C>T	ENST00000409195.1	+	9	1605	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H506Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H284Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	331					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						TAAACACATCCATCCTGAGTT	0.368000													12	25					0	0	0.000978	0	0
ZNF552	79818	broad.mit.edu	37	19	58320092	58320092	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58320092G>A	ENST00000391701.1	-	3	709	c.540C>T	c.(538-540)ctC>ctT	p.L180L	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATCCTGACCTGAGCAAAAAGT	0.488000													40	96					0	0	0.006999	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937826	15937826	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:15937826G>A	ENST00000382333.1	-	3	724	c.430C>T	c.(430-432)Cca>Tca	p.P144S	FGFBP1_ENST00000259988.2_Missense_Mutation_p.P144S	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	144					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTGGATTCTGGAAAATCCTTT	0.463000													23	36					0	0	0.003330	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220982	140220982	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140220982G>A	ENST00000531613.1	+	1	76	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V26M	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGAAGGTGGGGAGCGG	0.607000													22	43					0	0	0.001882	0	0
CUX2	23316	broad.mit.edu	37	12	111785472	111785472	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:111785472G>A	ENST00000261726.6	+	22	3958	c.3804G>A	c.(3802-3804)caG>caA	p.Q1268Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTGAGGACCAGAAGCCAACCG	0.622000													18	22					0	0	0.004990	0	0
SPANXC	64663	broad.mit.edu	37	X	140335800	140335800	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:140335800C>T	ENST00000358993.2	-	2	182	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	48						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTAGTATGGTCGAGGACTCAG	0.512000													65	58					0	0	0.003610	0	0
HOXB2	3212	broad.mit.edu	37	17	46620542	46620542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:46620542C>T	ENST00000330070.4	-	2	2126	c.959G>A	c.(958-960)gGa>gAa	p.G320E		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	320					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGAGAGGCCTCCGGATAGCTG	0.597000													42	61					0	0	0.002522	0	0
MUC6	4588	broad.mit.edu	37	11	1016670	1016670	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1016670C>T	ENST00000421673.2	-	31	6181	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2044	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACGGTGCCTGTTGGCGT	0.572000													38	583					0	0	0.005524	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248004713C>T	ENST00000355784.2	-	1	541	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000													26	69					0	0	0.004656	0	0
ACAD11	84129	broad.mit.edu	37	3	132277877	132277877	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:132277877G>A	ENST00000264990.6	-	20	3252	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	ACAD11_ENST00000545291.1_Missense_Mutation_p.L286F|ACAD11_ENST00000355458.3_Missense_Mutation_p.L657F	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATTGCTGAAAGATGAACTTCG	0.478000													23	43					0	0	0.006320	0	0
THEMIS	387357	broad.mit.edu	37	6	128134578	128134578	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:128134578C>T	ENST00000368250.1	-	5	1469	c.971G>A	c.(970-972)gGa>gAa	p.G324E	THEMIS_ENST00000368248.2_Missense_Mutation_p.G403E|THEMIS_ENST00000537166.1_Missense_Mutation_p.G368E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G403E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	403	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTTTTTATTCCCTCACAGAG	0.468000													35	57					0	0	0.002445	0	0
PDE4A	5141	broad.mit.edu	37	19	10578097	10578097	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10578097C>T	ENST00000380702.2	+	16	2395	c.2395C>T	c.(2395-2397)Ctc>Ttc	p.L799F	PDE4A_ENST00000293683.5_Missense_Mutation_p.L795F|PDE4A_ENST00000352831.6_Missense_Mutation_p.L821F|PDE4A_ENST00000592685.1_Missense_Mutation_p.L799F|PDE4A_ENST00000440014.2_Missense_Mutation_p.L760F|PDE4A_ENST00000344979.3_Missense_Mutation_p.L582F			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	821					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AAGCCCCCTTCTCCCTGCTTG	0.662000													37	96					0	0	0.006230	0	0
ACVR2B	93	broad.mit.edu	37	3	38519999	38519999	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38519999T>A	ENST00000352511.3	+	5	1128	c.656T>A	c.(655-657)tTc>tAc	p.F219Y		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	219	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GTCAAGATCTTCCCACTCCAG	0.577000													28	58					0	0	0.002096	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368957	86368957	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:86368957C>T	ENST00000400286.2	-	2	2285	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	563	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAGAGAATTTCACTATTTAGG	0.433000													30	40					0	0	0.009535	0	0
PNP	4860	broad.mit.edu	37	14	20943275	20943275	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20943275G>A	ENST00000361505.5	+	5	662	c.516G>A	c.(514-516)caG>caA	p.Q172Q	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	172					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CTATGAGGCAGAGGGCTCTCA	0.493000													23	61					0	0	0.003954	0	0
SRSF11	9295	broad.mit.edu	37	1	70715710	70715710	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:70715710C>T	ENST00000370950.3	+	11	1180	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Silent_p.S366S|SRSF11_ENST00000370951.1_Silent_p.S366S|SRSF11_ENST00000370949.1_Silent_p.S306S			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	366					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						GAAAATTGTCCCGCTCACCAT	0.373000													16	57					0	0	0.004007	0	0
OR4D9	390199	broad.mit.edu	37	11	59282987	59282987	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:59282987C>T	ENST00000329328.3	+	1	602	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGATGATTTCAAATAATGGG	0.473000													18	83					0	0	0.004990	0	0
C8B	732	broad.mit.edu	37	1	57406640	57406640	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:57406640A>C	ENST00000543257.1	-	10	1690	c.1124T>G	c.(1123-1125)gTa>gGa	p.V375G	C8B_ENST00000371237.4_Missense_Mutation_p.V427G|C8B_ENST00000535057.1_Missense_Mutation_p.V365G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	427	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCCTCCTCGTACCAGGACCAC	0.577000													14	27					0	0	0.004007	0	0
MYH1	4619	broad.mit.edu	37	17	10401102	10401102	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10401102C>T	ENST00000226207.5	-	31	4408	c.4314G>A	c.(4312-4314)agG>agA	p.R1438R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1438						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCATTTGTCCTCTCAACAT	0.433000													22	42					0	0	0.001882	0	0
ITGA7	3679	broad.mit.edu	37	12	56096685	56096685	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56096685G>A	ENST00000257880.7	-	3	604	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ITGA7_ENST00000553804.1_Missense_Mutation_p.R129W|ITGA7_ENST00000347027.6_Missense_Mutation_p.R129W|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.R129W|ITGA7_ENST00000394230.2_Missense_Mutation_p.R129W|ITGA7_ENST00000257879.6_Missense_Mutation_p.R129W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R129W			Q13683	ITA7_HUMAN	integrin, alpha 7	129					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R129W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGGCTCCGAACACTGACT	0.522000													18	58					0	0	0.007413	0	0
ZNF812	729648	broad.mit.edu	37	19	9801391	9801391	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9801391G>A	ENST00000457674.2	-	5	1306	c.788C>T	c.(787-789)tCc>tTc	p.S263F	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACATTAAAGGATGAGGAATT	0.348000													14	33					0	0	0.001855	0	0
CACNB1	782	broad.mit.edu	37	17	37331907	37331907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:37331907G>A	ENST00000394303.3	-	14	1543	c.1336C>T	c.(1336-1338)Ccc>Tcc	p.P446S	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	446					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCAAGGTAGGGTCCCTGGTTA	0.602000													11	49					0	0	0.000978	0	0
HAUS1	115106	broad.mit.edu	37	18	43705713	43705713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:43705713C>T	ENST00000282058.6	+	8	822	c.742C>T	c.(742-744)Ccg>Tcg	p.P248S	HAUS1_ENST00000585518.1_Missense_Mutation_p.S116F|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	248					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTTAAAGAATCCGTCTCTTGC	0.294000													8	10					0	0	0.004482	0	0
UNC13A	23025	broad.mit.edu	37	19	17735681	17735681	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17735681G>A	ENST00000428389.2	-	36	4417	c.4418C>T	c.(4417-4419)aCc>aTc	p.T1473I	UNC13A_ENST00000519716.2_Missense_Mutation_p.T1385I|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1383I|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1385I|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1385I|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1385I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1385	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCTCCATGGTGTTCATAAC	0.602000													26	18					0	0	0.004656	0	0
ZNF513	130557	broad.mit.edu	37	2	27603104	27603104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27603104C>T	ENST00000323703.6	-	2	265	c.67G>A	c.(67-69)Gac>Aac	p.D23N	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	23					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGGGAGTCTTCAGTATCC	0.577000													34	82					0	0	0.009718	0	0
XKR5	389610	broad.mit.edu	37	8	6682706	6682706	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:6682706G>A	ENST00000518724.1	-	0	558							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TATCTGTGAAGTCTGAGGCTA	0.557000													18	42					0	0	0.003330	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610552	47610552	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47610552G>A	ENST00000371891.3	+	9	1163	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.E280K|CYP4A22_ENST00000294337.3_Missense_Mutation_p.E378K|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	378						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGCATTAAGGAGGCACTGAG	0.582000													12	26					0	0	0.001368	0	0
RBBP4	5928	broad.mit.edu	37	1	33138435	33138435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:33138435G>A	ENST00000373493.5	+	11	1304	c.1145G>A	c.(1144-1146)tGg>tAg	p.W382*	RBBP4_ENST00000458695.2_Nonsense_Mutation_p.W347*|RBBP4_ENST00000373485.1_Nonsense_Mutation_p.W382*|RBBP4_ENST00000414241.3_Nonsense_Mutation_p.W381*|RBBP4_ENST00000544435.1_Nonsense_Mutation_p.W130*	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	382					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GATTTCTCCTGGAATCCCAAT	0.383000													15	34					0	0	0.008871	0	0
MYO5C	55930	broad.mit.edu	37	15	52517715	52517715	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:52517715G>A	ENST00000261839.7	-	26	3383	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1074						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTTTTTCGAACTCAGAGA	0.368000													10	72					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883927	228883927	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:228883927G>A	ENST00000392056.3	-	7	1689	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S548F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	548						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCATTGATGGAAGGTTCCTT	0.532000													27	81					0	0	0.004656	0	0
PARP4	143	broad.mit.edu	37	13	25016098	25016098	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:25016098A>C	ENST00000381989.3	-	30	3657	c.3552T>G	c.(3550-3552)aaT>aaG	p.N1184K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1184					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGGCGACTCATTCTCATCCT	0.403000													9	12					0	0	0.000978	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917186	89917186	+	Silent	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:89917186G>T	ENST00000548729.1	-	3	1434	c.1132C>A	c.(1132-1134)Cgg>Agg	p.R378R	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Silent_p.R209R|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Silent_p.R381R	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TCTGCTGCCCGAGCAGTATTC	0.473000													24	31					5.35356e-11	6.18425e-11	0.002780	1	0
MRAP	56246	broad.mit.edu	37	21	33684140	33684140	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:33684140G>A	ENST00000399784.2	+	5	539	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	MRAP_ENST00000303645.5_Missense_Mutation_p.G118S|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000497833.1_3'UTR	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	118					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						GAGCAGAACTGGCCCTGACCA	0.647000													10	23					0	0	0.008291	0	0
NWD1	284434	broad.mit.edu	37	19	16918651	16918651	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:16918651G>T	ENST00000524140.2	+	18	4409	c.3991G>T	c.(3991-3993)Gac>Tac	p.D1331Y	NWD1_ENST00000523826.1_Missense_Mutation_p.D1125Y|NWD1_ENST00000379808.3_Missense_Mutation_p.D1331Y|NWD1_ENST00000339803.6_Missense_Mutation_p.D1196Y|NWD1_ENST00000552788.1_Missense_Mutation_p.D1331Y|NWD1_ENST00000549814.1_Missense_Mutation_p.D1289Y	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1331							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTCCGGGGACCCCTGCCC	0.607000													26	52					7.26314e-15	8.40267e-15	0.007291	1	0
PRB2	653247	broad.mit.edu	37	12	11546792	11546792	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11546792G>A	ENST00000389362.4	-	3	255	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602000													6	202					0	0	0.003080	0	0
HEATR5B	54497	broad.mit.edu	37	2	37230775	37230775	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:37230775G>A	ENST00000233099.5	-	31	5055	c.4960C>T	c.(4960-4962)Cca>Tca	p.P1654S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1654S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1654							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAGATGATGGATTCCAGGTC	0.373000													11	29					0	0	0.008291	0	0
MS4A8	83661	broad.mit.edu	37	11	60468529	60468529	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:60468529C>T	ENST00000300226.2	+	2	399	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		GCAGAAAGCTCTGAAAGAAGG	0.552000													15	26					0	0	0.003163	0	0
OR10A7	121364	broad.mit.edu	37	12	55615199	55615199	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55615199C>T	ENST00000326258.1	+	1	391	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TAACCCTCTCCATTATTCAGT	0.458000													35	68					0	0	0.003755	0	0
MYLK	4638	broad.mit.edu	37	3	123456251	123456251	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:123456251G>A	ENST00000360772.3	-	9	1106	c.728C>T	c.(727-729)tCg>tTg	p.S243L	MYLK_ENST00000346322.5_Missense_Mutation_p.S243L|MYLK_ENST00000359169.1_Missense_Mutation_p.S243L|MYLK_ENST00000475616.1_Missense_Mutation_p.S243L|MYLK_ENST00000360304.3_Missense_Mutation_p.S243L			Q15746	MYLK_HUMAN	myosin light chain kinase	243	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCTGACATCGAGGCCTTCCC	0.567000													28	71					0	0	0.007291	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588184	118588184	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:118588184C>T	ENST00000360388.4	+	4	705	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	168					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGATCCCAGTCGTGATTTTGC	0.493000													93	215					0	0	0.003610	0	0
SPATA16	83893	broad.mit.edu	37	3	172835378	172835378	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:172835378C>T	ENST00000351008.3	-	2	327	c.144G>A	c.(142-144)aaG>aaA	p.K48K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	48					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CACAGTTTTTCTTAATCTCTT	0.383000													74	150					0	0	0.003610	0	0
RASSF4	83937	broad.mit.edu	37	10	45479559	45479559	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:45479559C>T	ENST00000334940.6	+	5	532	c.398C>T	c.(397-399)tCg>tTg	p.S133L	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Missense_Mutation_p.S124L|RASSF4_ENST00000374417.2_Intron			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	124					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACAGACAGCTCGGGTAAGCGG	0.597000													3	5					0	0	0.009096	0	0
SEMA3E	9723	broad.mit.edu	37	7	83047717	83047717	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:83047717G>A	ENST00000307792.3	-	5	1006	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SEMA3E_ENST00000427262.1_Missense_Mutation_p.S120F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	180	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AATTAAAGTGGAGATGAAGGA	0.408000													16	6					0	0	0.004007	0	0
TRIML1	339976	broad.mit.edu	37	4	189063546	189063546	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:189063546G>A	ENST00000332517.3	+	3	785	c.645G>A	c.(643-645)gaG>gaA	p.E215E	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	215					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGAACAATGAGATCAAACTGA	0.448000													22	31					0	0	0.002780	0	0
ZPBP	11055	broad.mit.edu	37	7	49977143	49977143	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:49977143C>T	ENST00000046087.2	-	8	1106	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	ZPBP_ENST00000419417.1_Missense_Mutation_p.G345E|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	346					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CGTTTTTGCTCCATACACCAG	0.333000													26	92					0	0	0.002445	0	0
LMLN	89782	broad.mit.edu	37	3	197723072	197723072	+	Silent	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:197723072T>C	ENST00000330198.4	+	10	1096	c.1074T>C	c.(1072-1074)tgT>tgC	p.C358C	LMLN_ENST00000420910.2_Silent_p.C358C|LMLN_ENST00000482695.1_Silent_p.C306C|LMLN_ENST00000332636.5_Silent_p.C306C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	358					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ATTTTGATTGTCCAGTTCTAG	0.363000													14	33					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9062673	9062673	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9062673G>A	ENST00000397910.4	-	3	24976	c.24773C>T	c.(24772-24774)tCc>tTc	p.S8258F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|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						TTCCACAGAGGATTGACTAGG	0.502000													23	50					0	0	0.002780	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254982	15254982	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:15254982C>T	ENST00000378116.4	-	8	2611	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	869						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGTCTTCTCCTTGGTCATCA	0.557000													53	124					0	0	0.003610	0	0
ERBB4	2066	broad.mit.edu	37	2	212495276	212495276	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:212495276G>A	ENST00000342788.4	-	17	2300	c.1990C>T	c.(1990-1992)Ctg>Ttg	p.L664L	ERBB4_ENST00000402597.1_Silent_p.L654L|ERBB4_ENST00000436443.1_Silent_p.L664L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	664					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)		ACAATGACCAGAATGAAGAGC	0.393000										TSP Lung(8;0.080)			41	71					0	0	0.003214	0	0
RFPL3	10738	broad.mit.edu	37	22	32756276	32756276	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:32756276C>T	ENST00000249007.4	+	2	616	c.411C>T	c.(409-411)ttC>ttT	p.F137F	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.F108F|RFPL3_ENST00000397468.1_Silent_p.F108F	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	137	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCAACAACTTCCTCCTCATTT	0.517000													40	64					0	0	0.007835	0	0
CPN2	1370	broad.mit.edu	37	3	194063251	194063251	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:194063251A>G	ENST00000323830.3	-	2	270	c.181T>C	c.(181-183)Ttc>Ctc	p.F61L	CPN2_ENST00000429275.1_Missense_Mutation_p.F61L	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	61					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AATGTGGTGAACGAGGTCTCC	0.532000													25	74					0	0	0.007291	0	0
TET3	200424	broad.mit.edu	37	2	74328497	74328497	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74328497C>T	ENST00000409262.3	+	9	4177	c.4177C>T	c.(4177-4179)Ccc>Tcc	p.P1393S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1393							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGGCTGGGCCCAGCCTGAC	0.637000													16	40					0	0	0.004007	0	0
HTR3C	170572	broad.mit.edu	37	3	183773112	183773112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:183773112C>T	ENST00000318351.1	+	3	281	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	83						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCACAGCTCCAGCTGCTGAC	0.408000													22	33					0	0	0.004656	0	0
AGBL4	84871	broad.mit.edu	37	1	49128876	49128876	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:49128876G>A	ENST00000371839.1	-	7	788	c.672C>T	c.(670-672)ttC>ttT	p.F224F	AGBL4_ENST00000334103.7_5'UTR|AGBL4_ENST00000371838.1_Silent_p.F224F	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	224					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GTCCTGTGATGAATACCACCT	0.493000													39	85					0	0	0.003214	0	0
HOXD10	3236	broad.mit.edu	37	2	176983951	176983951	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:176983951T>C	ENST00000249501.4	+	2	1270	c.1015T>C	c.(1015-1017)Ttt>Ctt	p.F339L	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	339						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAACCTCACGTTTTCTTAggt	0.582000													22	23					0	0	0.010504	0	0
CFB	629	broad.mit.edu	37	6	31896606	31896606	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31896606G>A	ENST00000477310.1	+	3	383	c.354G>A	c.(352-354)gaG>gaA	p.E118E	CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Silent_p.E118E|C2_ENST00000299367.5_Silent_p.E118E|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	132	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCGAGTGTGAGGATGGCTTCA	0.577000													130	295					0	0	0.003610	0	0
AMPD3	272	broad.mit.edu	37	11	10506366	10506366	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:10506366G>A	ENST00000444303.2	+	4	584		c.e4-1		AMPD3_ENST00000396554.3_Splice_Site	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3						AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTGTTTTGCAGACTTCCACCC	0.582000													30	78					0	0	0.009535	0	0
COL4A5	1287	broad.mit.edu	37	X	107829883	107829883	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:107829883A>T	ENST00000328300.6	+	19	1315	c.1071A>T	c.(1069-1071)gaA>gaT	p.E357D	COL4A5_ENST00000361603.2_Missense_Mutation_p.E357D	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	357	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTATAGGAGAAAAAGGAAACA	0.423000									Alport syndrome with Diffuse Leiomyomatosis				47	33					0	0	0.003610	0	0
DNAH1	25981	broad.mit.edu	37	3	52398929	52398929	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52398929C>T	ENST00000420323.2	+	34	5673	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1804					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1804I(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCTGGCATCGTGTCCGACC	0.607000													27	65					0	0	0.005443	0	0
COX6C	1345	broad.mit.edu	37	8	100904221	100904221	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:100904221C>T	ENST00000520468.2	-	2	483	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	COX6C_ENST00000524245.1_Missense_Mutation_p.R10Q|COX6C_ENST00000517682.2_Missense_Mutation_p.R10Q|COX6C_ENST00000297564.2_Missense_Mutation_p.R10Q|COX6C_ENST00000518171.1_Missense_Mutation_p.R10Q|COX6C_ENST00000522940.1_Missense_Mutation_p.R10Q|COX6C_ENST00000523016.1_Missense_Mutation_p.R10Q|COX6C_ENST00000520271.1_Missense_Mutation_p.R10Q	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity		HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCCACGCATCCGAGGTTTTGG	0.433000			T	HMGA2	uterine leiomyoma								45	102					0	0	0.008740	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336865	162336865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:162336865G>A	ENST00000493151.1	+	2	2611	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOS1AP_ENST00000361897.5_Missense_Mutation_p.E377K|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E372K|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E63K|NOS1AP_ENST00000454693.1_3'UTR	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	377	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGCTTGCTGGAGATCACCTT	0.657000													34	123					0	0	0.006230	0	0
APOB	338	broad.mit.edu	37	2	21234846	21234846	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:21234846C>T	ENST00000233242.1	-	26	5021	c.4894G>A	c.(4894-4896)Ggc>Agc	p.G1632S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1632					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTCAGTGCCTAAGATGTCA	0.438000													218	394					0	0	0.003610	0	0
PEAK1	79834	broad.mit.edu	37	15	77473384	77473384	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:77473384G>A	ENST00000560626.2	-	4	1360	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PEAK1_ENST00000558305.1_Silent_p.P295P|PEAK1_ENST00000312493.4_Silent_p.P295P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	295					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGTTTCGCAGGGGGATGGTAT	0.443000													26	123					0	0	0.006320	0	0
PDX1	3651	broad.mit.edu	37	13	28498687	28498687	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:28498687A>C	ENST00000381033.4	+	2	820	c.701A>C	c.(700-702)gAg>gCg	p.E234A		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	234					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TCCGGCGAGGAGCTTCTGGCG	0.761000													17	58					0	0	0.006122	0	0
GPR18	2841	broad.mit.edu	37	13	99907871	99907871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99907871C>T	ENST00000340807.3	-	3	812	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	GPR18_ENST00000397473.2_Missense_Mutation_p.E86K|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.E86K|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	86				E -> A (in Ref. 1; AAB65819).		integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	AATGGCCATTCATCTTTTGCA	0.388000													14	39					0	0	0.004007	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725259	140725259	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140725259G>A	ENST00000253812.6	+	1	1659	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGTGCTGGACCAGAACG	0.622000													59	104					0	0	0.003610	0	0
PAAF1	80227	broad.mit.edu	37	11	73620606	73620606	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:73620606C>T	ENST00000544909.1	+	5	955	c.698C>T	c.(697-699)tCc>tTc	p.S233F	PAAF1_ENST00000536003.1_Missense_Mutation_p.S215F|PAAF1_ENST00000544552.1_Missense_Mutation_p.S215F|PAAF1_ENST00000541951.1_Missense_Mutation_p.S117F|PAAF1_ENST00000535604.1_Missense_Mutation_p.S117F|PAAF1_ENST00000376384.5_Missense_Mutation_p.S215F|PAAF1_ENST00000310571.3_Missense_Mutation_p.S232F			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	232					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCTGACAACTCCATAAACCTT	0.488000													38	46					0	0	0.009718	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570341	61570341	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:61570341T>A	ENST00000457692.1	+	9	1383	c.1050T>A	c.(1048-1050)ttT>ttA	p.F350L	SERPINB2_ENST00000299502.4_Missense_Mutation_p.F350L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	350					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGACCTGTTTCTTTCTGAAG	0.517000													14	54					0	0	0.002450	0	0
PPP3CB	5532	broad.mit.edu	37	10	75238270	75238270	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75238270T>A	ENST00000360663.5	-	3	509	c.398A>T	c.(397-399)tAt>tTt	p.Y133F	PPP3CB_ENST00000545874.1_Missense_Mutation_p.Y47F|PPP3CB_ENST00000394822.2_Missense_Mutation_p.Y133F|PPP3CB_ENST00000394828.2_Missense_Mutation_p.Y133F|PPP3CB_ENST00000394829.2_Missense_Mutation_p.Y133F|PPP3CB_ENST00000342558.3_Missense_Mutation_p.Y133F			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	133	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TATACTAAAATAACCTCTGTC	0.348000													22	43					0	0	0.002299	0	0
GPC5	2262	broad.mit.edu	37	13	92345554	92345554	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:92345554G>A	ENST00000377067.3	+	3	811	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	147						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTTCTTCACTGATGTGGGGCT	0.408000													20	74					0	0	0.010504	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687360	27687360	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:27687360G>A	ENST00000438700.3	-	4	2284	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	723					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAAAAATCAGGAATATTGTTC	0.299000													19	30					0	0	0.007413	0	0
RTN2	6253	broad.mit.edu	37	19	45997524	45997524	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:45997524C>T	ENST00000245923.4	-	4	949	c.714G>A	c.(712-714)gaG>gaA	p.E238E	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Silent_p.E238E|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	238						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCTTTTCTTCCTCTTCCAGCA	0.612000													26	53					0	0	0.006320	0	0
DNASE2	1777	broad.mit.edu	37	19	12991617	12991617	+	Splice_Site	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:12991617C>A	ENST00000222219.3	-	3	437	c.346_splice	c.e3+1	p.K115_splice	DNASE2_ENST00000538460.1_Splice_Site_p.K115_splice	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	115					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGCCTCACCCTTCGTGTGCC	0.607000													48	114					1.10885e-35	1.28956e-35	0.003610	1	0
STK31	56164	broad.mit.edu	37	7	23854809	23854809	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:23854809C>T	ENST00000354639.3	+	23	3202	c.2738C>T	c.(2737-2739)cCc>cTc	p.P913L	STK31_ENST00000428484.1_Missense_Mutation_p.P913L|STK31_ENST00000355870.3_Missense_Mutation_p.P936L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Intron	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	936	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGGAATCCCCAAAGTGGAT	0.333000													14	37					0	0	0.004990	0	0
TM2D3	80213	broad.mit.edu	37	15	102185351	102185351	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:102185351G>A	ENST00000561373.1	-	3	878	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	TM2D3_ENST00000428002.2_Missense_Mutation_p.P147S|TM2D3_ENST00000333202.3_Missense_Mutation_p.P173S|TM2D3_ENST00000347970.3_Missense_Mutation_p.P147S|TM2D3_ENST00000559107.1_Missense_Mutation_p.P173S			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	173						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCATTTTGGGAAAAGTACGG	0.353000													25	11					0	0	0.004656	0	0
ABCC3	8714	broad.mit.edu	37	17	48765080	48765080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:48765080G>A	ENST00000285238.8	+	30	4544	c.4464G>A	c.(4462-4464)atG>atA	p.M1488I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1488	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACACTATCATGGACTACACCA	0.562000													15	34					0	0	0.004007	0	0
WDR33	55339	broad.mit.edu	37	2	128476849	128476849	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:128476849G>A	ENST00000322313.4	-	16	2908	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	917					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGGTTGAAGGGGGCCCGGGG	0.512000													57	119					0	0	0.003610	0	0
OR6K6	128371	broad.mit.edu	37	1	158725526	158725526	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158725526C>T	ENST00000368144.2	+	1	1017	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	307					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)					CTTTTGTTATCCTTGCTCCCT	0.438000													17	59					0	0	0.004990	0	0
NLRP9	338321	broad.mit.edu	37	19	56244087	56244087	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56244087G>A	ENST00000332836.2	-	2	1137	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	370	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTGTTAAAAAGGATGCATATA	0.438000													28	77					0	0	0.005443	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077636	146077636	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:146077636G>A	ENST00000394413.3	-	3	810	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PPP2R2B_ENST00000504198.1_Silent_p.F86F|PPP2R2B_ENST00000394409.3_Silent_p.F138F|PPP2R2B_ENST00000394411.4_Silent_p.F80F|PPP2R2B_ENST00000394410.2_Silent_p.F69F|PPP2R2B_ENST00000336640.6_Silent_p.F83F|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Silent_p.F80F|PPP2R2B_ENST00000356826.3_Silent_p.F80F|PPP2R2B_ENST00000508545.2_Silent_p.F69F|PPP2R2B_ENST00000394414.1_Silent_p.F146F			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	80					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.F69F(1)|p.F80F(1)|p.F83F(1)|p.F138F(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGGTAATCGAACTCGGGTT	0.383000													55	107					0	0	0.003610	0	0
LRRC37B	114659	broad.mit.edu	37	17	30358412	30358412	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:30358412T>A	ENST00000327564.7	+	5	2053	c.1992T>A	c.(1990-1992)aaT>aaA	p.N664K	LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.N555K|LRRC37B_ENST00000341671.7_Missense_Mutation_p.N637K|LRRC37B_ENST00000584368.1_Intron			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	637						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGGGCTGCAATTTAATTACAA	0.343000													8	54					0	0	0.004482	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080284	70080284	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:70080284C>T	ENST00000446444.1	-	1	165	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	53					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGTACAGTCACCTCATGACCT	0.413000													47	80					0	0	0.003610	0	0
TAF1L	138474	broad.mit.edu	37	9	32630810	32630810	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:32630810C>T	ENST00000242310.4	-	1	4857	c.4768G>A	c.(4768-4770)Gat>Aat	p.D1590N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1590	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTTACATCATCTAGAAAA	0.388000													17	35					0	0	0.006122	0	0
REEP1	65055	broad.mit.edu	37	2	86481850	86481850	+	Silent	SNP	C	C	T	rs141929755		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:86481850C>T	ENST00000165698.5	-	4	413	c.270G>A	c.(268-270)aaG>aaA	p.K90K	REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000540790.1_Silent_p.K69K|REEP1_ENST00000538924.1_Silent_p.K97K|REEP1_ENST00000535845.1_Silent_p.K63K	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	90					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATGTACAAACTTCCTGTACA	0.388000													28	38					0	0	0.009535	0	0
LYPD4	147719	broad.mit.edu	37	19	42341250	42341250	+	Silent	SNP	G	G	A	rs148256898		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42341250G>A	ENST00000330743.3	-	5	1919	c.708C>T	c.(706-708)gtC>gtT	p.V236V	LYPD4_ENST00000601246.1_Silent_p.V201V|LYPD4_ENST00000343055.4_Silent_p.V201V	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	236						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGCCTAAGACGACACCCCAAG	0.483000													24	51					0	0	0.002299	0	0
PLXND1	23129	broad.mit.edu	37	3	129281741	129281741	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:129281741C>G	ENST00000393239.1	-	27	4892	c.4714G>C	c.(4714-4716)Gtg>Ctg	p.V1572L	PLXND1_ENST00000324093.4_Missense_Mutation_p.V1572L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1572					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGGCCCGCACGCTCAGCGAG	0.592000													8	25					0	0	0.004482	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130441	38130441	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38130441C>T	ENST00000406386.3	+	9	4353	c.4098C>T	c.(4096-4098)acC>acT	p.T1366T	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1366					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGAACTGACCCGGCGGAGCC	0.647000													16	37					0	0	0.010504	0	0
LAMA1	284217	broad.mit.edu	37	18	7036045	7036045	+	Missense_Mutation	SNP	C	C	T	rs143022454	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:7036045C>T	ENST00000389658.3	-	13	1873	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	594	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGGAATATCGTAGGACACC	0.443000													5	34					0	0	0.000602	0	0
AKAP3	10566	broad.mit.edu	37	12	4736646	4736646	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4736646G>A	ENST00000545990.2	-	5	1946	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	AKAP3_ENST00000228850.1_Silent_p.F474F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	474					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTGCATGCTGGAAACCTAGAG	0.463000													6	34					0	0	0.004482	0	0
KIAA1841	84542	broad.mit.edu	37	2	61304125	61304125	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:61304125C>T	ENST00000402291.1	+	6	743	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	KIAA1841_ENST00000356719.2_Missense_Mutation_p.L168F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L168F|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L168F	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	168										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCCGCGAGATCTTTTGATATC	0.373000													28	69					0	0	0.006320	0	0
ASL	435	broad.mit.edu	37	7	65556996	65556996	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:65556996C>T	ENST00000304874.9	+	15	1168	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.H356Y|ASL_ENST00000395331.3_Missense_Mutation_p.H336Y|ASL_ENST00000380839.4_Missense_Mutation_p.H330Y|AC068533.7_ENST00000450043.1_Missense_Mutation_p.S124L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	356					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCCCAGATTCACCAAGAGAA	0.632000													57	115					0	0	0.003610	0	0
OR52M1	119772	broad.mit.edu	37	11	4566547	4566547	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4566547G>C	ENST00000360213.1	+	1	127	c.127G>C	c.(127-129)Ggg>Cgg	p.G43R		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGTGGTGGGGAATGTGAC	0.562000													21	45					0	0	0.001882	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466191	24466191	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:24466191C>T	ENST00000382137.3	-	3	307	c.239G>A	c.(238-240)gGa>gAa	p.G80E	C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.G80E|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.G80E|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G80E	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	80	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTCAACTTTTCCATCTGCTCC	0.433000													26	60					0	0	0.004289	0	0
LAMA3	3909	broad.mit.edu	37	18	21479405	21479405	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21479405G>A	ENST00000313654.9	+	47	6231	c.5990G>A	c.(5989-5991)aGg>aAg	p.R1997K	LAMA3_ENST00000269217.6_Missense_Mutation_p.R388K|LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1997	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGATAAAAGGGAGTCGCAG	0.483000													11	18					0	0	0.001368	0	0
FIP1L1	81608	broad.mit.edu	37	4	54310258	54310258	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:54310258C>T	ENST00000337488.6	+	15	1467	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	FIP1L1_ENST00000306932.6_Missense_Mutation_p.P351S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P419S|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	425					mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACGTGCATTTCCATATGGCAA	0.308000			T	PDGFRA	idiopathic hypereosinophilic syndrome								15	30					0	0	0.004990	0	0
TECRL	253017	broad.mit.edu	37	4	65194272	65194272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:65194272G>A	ENST00000381210.3	-	3	399	c.289C>T	c.(289-291)Cca>Tca	p.P97S	TECRL_ENST00000507440.1_Missense_Mutation_p.P97S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	97					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACCACTTTGGACCTATTCAA	0.323000													25	31					0	0	0.008361	0	0
NOX4	50507	broad.mit.edu	37	11	89088167	89088167	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:89088167C>T	ENST00000535633.1	-	13	1418	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	NOX4_ENST00000534731.1_Missense_Mutation_p.E394K|NOX4_ENST00000528341.1_Missense_Mutation_p.E369K|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Missense_Mutation_p.E87K|NOX4_ENST00000542487.1_Missense_Mutation_p.E370K|NOX4_ENST00000532825.1_Missense_Mutation_p.E370K|NOX4_ENST00000424319.1_Missense_Mutation_p.E370K|NOX4_ENST00000263317.4_Missense_Mutation_p.E394K|NOX4_ENST00000531342.1_Missense_Mutation_p.E87K|NOX4_ENST00000527626.1_Missense_Mutation_p.E228K|NOX4_ENST00000343727.5_Missense_Mutation_p.E370K|NOX4_ENST00000413594.2_Missense_Mutation_p.E415K|NOX4_ENST00000527956.1_Missense_Mutation_p.E370K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	394	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGCAGAATTTCGGAGTCTTGA	0.378000													5	21					0	0	0.001168	0	0
NOP14	8602	broad.mit.edu	37	4	2955286	2955286	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:2955286G>A	ENST00000416614.2	-	5	764	c.699C>T	c.(697-699)tcC>tcT	p.S233S	NOP14_ENST00000398071.4_Silent_p.S233S|NOP14_ENST00000314262.6_Silent_p.S233S|NOP14_ENST00000502735.1_Silent_p.S233S|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	233					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GAGTTTTGTGGGACAGGAGAG	0.483000													75	117					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189867065	189867065	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:189867065C>T	ENST00000304636.3	+	35	2603	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	COL3A1_ENST00000317840.5_Silent_p.F811F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	811	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTGGTTTCCCTGGTGCTC	0.438000													18	40					0	0	0.010504	0	0
ATP9A	10079	broad.mit.edu	37	20	50286538	50286538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:50286538G>A	ENST00000338821.5	-	13	1555	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	ATP9A_ENST00000402822.1_Nonsense_Mutation_p.Q310*|ATP9A_ENST00000311637.5_Nonsense_Mutation_p.Q295*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	431					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGCTTTACCTGGGTGTAAATG	0.403000													43	78					0	0	0.003610	0	0
SLC4A5	57835	broad.mit.edu	37	2	74475491	74475491	+	Silent	SNP	G	G	A	rs148607545		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74475491G>A	ENST00000394019.2	-	18	2173	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.F592F|SLC4A5_ENST00000423644.1_Silent_p.F592F|SLC4A5_ENST00000377634.4_Silent_p.F592F|SLC4A5_ENST00000359484.4_Silent_p.F528F|SLC4A5_ENST00000358683.4_Silent_p.F528F|SLC4A5_ENST00000357822.5_Silent_p.F592F|SLC4A5_ENST00000346834.4_Silent_p.F592F	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	592						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.F592F(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCTGAAGTCGAAGAGGAGCT	0.592000													36	61					0	0	0.004878	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837224	12837224	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12837224C>T	ENST00000357726.4	+	3	961	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	312										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAAGCATCTCTCTTGGTG	0.557000													51	105					0	0	0.003610	0	0
FAM83B	222584	broad.mit.edu	37	6	54805149	54805149	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:54805149T>A	ENST00000306858.7	+	5	1496	c.1380T>A	c.(1378-1380)aaT>aaA	p.N460K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	460										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGACAGGAATTCAAATGTTC	0.453000													22	36					0	0	0.010504	0	0
GANC	2595	broad.mit.edu	37	15	42643552	42643552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42643552C>T	ENST00000318010.8	+	23	2797	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	853					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)		GGGTCATTATCCCAGCAAGTG	0.483000													16	32					0	0	0.006122	0	0
TPMT	7172	broad.mit.edu	37	6	18132364	18132364	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:18132364C>T	ENST00000309983.4	-	8	710	c.625_splice	c.e8+1	p.G209_splice		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	209					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	ACAAACTTACCAAACAACCTT	0.388000													11	36					0	0	0.001368	0	0
RAG1	5896	broad.mit.edu	37	11	36595229	36595229	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:36595229G>A	ENST00000299440.5	+	2	487	c.375G>A	c.(373-375)agG>agA	p.R125R		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	125	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCACAACAGGAGATATCCAG	0.488000									Familial Hemophagocytic Lymphohistiocytosis				49	86					0	0	0.003610	0	0
HSPA8	3312	broad.mit.edu	37	11	122930831	122930831	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:122930831T>G	ENST00000534624.1	-	4	833	c.557A>C	c.(556-558)gAc>gCc	p.D186A	HSPA8_ENST00000526110.1_Missense_Mutation_p.D167A|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.D186A|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.D186A|HSPA8_ENST00000532636.1_Missense_Mutation_p.D186A	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	186	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TACCTTTTTGTCTAAGCCGTA	0.373000													23	36					0	0	0.002780	0	0
FLI1	2313	broad.mit.edu	37	11	128677124	128677124	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:128677124G>A	ENST00000344954.6	+	7	1060	c.672G>A	c.(670-672)cgG>cgA	p.R224R	FLI1_ENST00000534087.1_Silent_p.R224R|FLI1_ENST00000281428.8_Silent_p.R191R|FLI1_ENST00000525560.1_Silent_p.R64R|FLI1_ENST00000429175.2_Silent_p.R257R			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	257					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAGAGCAACGGCCCCAGCCAG	0.512000			T	EWSR1	Ewing sarcoma								5	12					0	0	0.001984	0	0
PGBD2	267002	broad.mit.edu	37	1	249211020	249211020	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:249211020C>T	ENST00000539153.1	+	4	483	c.228C>T	c.(226-228)gtC>gtT	p.V76V	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.V79V|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	79										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCTTCAGTCCTGTGTGAGG	0.572000													22	25					0	0	0.001882	0	0
ZNF341	84905	broad.mit.edu	37	20	32349678	32349678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:32349678G>T	ENST00000375200.1	+	8	1404	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E340*			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCACACCGGTGAGAAGCCCTT	0.577000													34	79					2.19358e-23	2.5463e-23	0.005524	1	0
NUP205	23165	broad.mit.edu	37	7	135286117	135286117	+	Splice_Site	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:135286117G>T	ENST00000285968.6	+	17	2400		c.e17-1			NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTCTATTTAGGAGAAGAAAT	0.363000													6	156					0.00198382	0.00227551	0.001984	1	0
DSCAM	1826	broad.mit.edu	37	21	41414561	41414561	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:41414561G>A	ENST00000400454.1	-	32	5900	c.5423C>T	c.(5422-5424)tCc>tTc	p.S1808F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1808					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)				GTAAGTGGAGGAGGCACTTTC	0.522000													19	37					0	0	0.008871	0	0
CLCN6	1185	broad.mit.edu	37	1	11897408	11897408	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:11897408C>T	ENST00000346436.6	+	20	2199	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	CLCN6_ENST00000376496.3_Missense_Mutation_p.P716L|CLCN6_ENST00000376487.3_Missense_Mutation_p.P694L|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	716					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGATACACTCCCTACCCCAAC	0.582000													36	78					0	0	0.009718	0	0
NLRP8	126205	broad.mit.edu	37	19	56466711	56466711	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56466711G>A	ENST00000291971.3	+	3	1358	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R	NLRP8_ENST00000590542.1_Silent_p.R429R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTTCGTCCGGTATATTTCTA	0.488000													31	67					0	0	0.003271	0	0
ZNF225	7768	broad.mit.edu	37	19	44622362	44622362	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:44622362G>A	ENST00000592780.1	+	3	258	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF225_ENST00000262894.6_Missense_Mutation_p.V13M|ZNF225_ENST00000590612.1_Missense_Mutation_p.V13M			Q9UK10	ZN225_HUMAN	zinc finger protein 225	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CTTCAAGGACGTGGCTGTGGT	0.542000													30	79					0	0	0.002096	0	0
PCNT	5116	broad.mit.edu	37	21	47819663	47819663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:47819663C>T	ENST00000359568.5	+	25	4851	c.4744C>T	c.(4744-4746)Cag>Tag	p.Q1582*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1582					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCCCAGCTCCAGGAAGAAGT	0.473000													30	59					0	0	0.008361	0	0
AGTR1	185	broad.mit.edu	37	3	148459810	148459810	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148459810C>T	ENST00000542281.1	+	4	1434	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	AGTR1_ENST00000402260.1_Missense_Mutation_p.L330F|AGTR1_ENST00000461609.1_Missense_Mutation_p.L330F|AGTR1_ENST00000349243.3_Missense_Mutation_p.L330F|AGTR1_ENST00000474935.1_Missense_Mutation_p.L330F|AGTR1_ENST00000475347.1_Missense_Mutation_p.L330F|AGTR1_ENST00000404754.2_Missense_Mutation_p.L330F|AGTR1_ENST00000497524.1_Missense_Mutation_p.L330F|AGTR1_ENST00000418473.2_Missense_Mutation_p.L330F	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	330					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCACTCAAACCTTTCAACAAA	0.408000													15	24					0	0	0.003163	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886722	9886722	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:9886722C>T	ENST00000306084.6	+	2	445	c.246C>T	c.(244-246)gcC>gcT	p.A82A	TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.A15A|TXNDC2_ENST00000357775.4_Silent_p.A15A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	82					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGTCTGATGCCTCACAGGAGG	0.567000													17	31					0	0	0.004007	0	0
APPL1	26060	broad.mit.edu	37	3	57291392	57291392	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:57291392G>C	ENST00000288266.3	+	15	1513	c.1366G>C	c.(1366-1368)Gac>Cac	p.D456H		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	456					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AATACAGTTTGACATAATTTC	0.502000													25	69					0	0	0.003330	0	0
C6	729	broad.mit.edu	37	5	41143058	41143058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41143058C>T	ENST00000263413.3	-	18	2938	c.2674G>A	c.(2674-2676)Gga>Aga	p.G892R	C6_ENST00000337836.5_Missense_Mutation_p.G892R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	892	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTTGGTTTCCACCCTTGAAG	0.443000													25	44					0	0	0.004656	0	0
OR2C1	4993	broad.mit.edu	37	16	3406744	3406744	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:3406744G>A	ENST00000304936.2	+	1	856	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACAGCAAACAGGACCAGGGCA	0.537000													27	29					0	0	0.009535	0	0
ZHX1	11244	broad.mit.edu	37	8	124267897	124267897	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124267897A>C	ENST00000395571.3	-	3	907	c.290T>G	c.(289-291)gTg>gGg	p.V97G	ZHX1_ENST00000522655.1_Missense_Mutation_p.V97G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Missense_Mutation_p.V97G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	97					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTTAGCACTACATTGGG	0.333000													22	65					0	0	0.001882	0	0
RFT1	91869	broad.mit.edu	37	3	53138009	53138009	+	Silent	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:53138009A>C	ENST00000296292.3	-	10	1123	c.1062T>G	c.(1060-1062)gcT>gcG	p.A354A	RFT1_ENST00000394738.3_Silent_p.A315A	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	354					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AGATATCCAGAGCCAGCTGAG	0.512000													17	46					0	0	0.007413	0	0
FGF16	8823	broad.mit.edu	37	X	76711794	76711794	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:76711794C>T	ENST00000439435.1	+	2	131	c.131C>T	c.(130-132)tCc>tTc	p.S44F				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AATGTGTTTTCCGGGAACAGT	0.423000													36	37					0	0	0.007835	0	0
NYAP2	57624	broad.mit.edu	37	2	226446871	226446871	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:226446871C>T	ENST00000272907.6	+	4	1151	c.738C>T	c.(736-738)atC>atT	p.I246I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	246																	CCGTGTACATCGAGATGGTGG	0.602000													34	126					0	0	0.002445	0	0
KANK4	163782	broad.mit.edu	37	1	62740257	62740257	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62740257C>T	ENST00000371153.4	-	3	897	c.519G>A	c.(517-519)agG>agA	p.R173R	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	173										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTCAGAAGCCCTGCTGTGCA	0.642000													12	27					0	0	0.001368	0	0
PSG6	5675	broad.mit.edu	37	19	43406599	43406599	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43406599C>T	ENST00000187910.2	-	6	1306		c.e6-1		PSG6_ENST00000402603.4_Splice_Site	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				tggcagggacctgattgacag	0.458000													35	180					0	0	0.006230	0	0
SCN5A	6331	broad.mit.edu	37	3	38648291	38648291	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38648291C>T	ENST00000413689.1	-	9	1202	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SCN5A_ENST00000333535.4_Missense_Mutation_p.E337K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E337K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E337K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E337K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E337K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E337K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E337K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E337K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E337K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	337					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.E337K(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGTAGCCCTCCGGACATGTC	0.602000													21	62					0	0	0.003954	0	0
GDPD5	81544	broad.mit.edu	37	11	75160033	75160033	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:75160033C>T	ENST00000526177.1	-	5	2167	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	GDPD5_ENST00000533784.1_Missense_Mutation_p.G116R|GDPD5_ENST00000529721.1_Missense_Mutation_p.G235R|GDPD5_ENST00000336898.3_Missense_Mutation_p.G235R|GDPD5_ENST00000376282.3_Missense_Mutation_p.G116R|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	235					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ATGGGGGCCCCGCGGTGGCCA	0.607000													17	16					0	0	0.006122	0	0
ELTD1	64123	broad.mit.edu	37	1	79403957	79403957	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:79403957G>A	ENST00000370742.3	-	5	467	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTTTTATGGATCTGATCTG	0.308000													7	26					0	0	0.003080	0	0
CSF3R	1441	broad.mit.edu	37	1	36932440	36932440	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:36932440G>A	ENST00000373103.1	-	17	2657	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	CSF3R_ENST00000418048.2_Intron|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Intron|CSF3R_ENST00000487540.2_Intron|CSF3R_ENST00000373106.1_Intron|CSF3R_ENST00000338937.5_Intron|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000440588.2_Missense_Mutation_p.P704S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	680					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCACACAAGGATGTGGGGTG	0.602000													35	43					0	0	0.004878	0	0
ITGB3	3690	broad.mit.edu	37	17	45364510	45364510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:45364510G>A	ENST00000560629.1	+	6	817	c.817G>A	c.(817-819)Gga>Aga	p.G273R	ITGB3_ENST00000435993.2_Silent_p.L237L|ITGB3_ENST00000571680.1_Silent_p.L284L|ITGB3_ENST00000559488.1_Silent_p.L284L			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ATATAGCATTGGACGGAAGGC	0.463000													18	60					0	0	0.007413	0	0
ESRRB	2103	broad.mit.edu	37	14	76964656	76964656	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:76964656C>T	ENST00000380887.2	+	7	1229	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.P386L|ESRRB_ENST00000556177.1_Missense_Mutation_p.P386L|ESRRB_ENST00000261532.7_Missense_Mutation_p.P386L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	386						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P386L(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATGAGGAGCCCTGGAGGACG	0.617000													8	18					0	0	0.003080	0	0
ZNF676	163223	broad.mit.edu	37	19	22363955	22363955	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:22363955C>T	ENST00000397121.2	-	3	881	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	188				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAATACTCTTATAATAAG	0.343000													23	41					0	0	0.002780	0	0
SRD5A2	6716	broad.mit.edu	37	2	31806033	31806033	+	RNA	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:31806033T>G	ENST00000405650.1	-	0	103							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CCGCAACCCCTTTATGGAGCG	0.726000													7	11					0	0	0.003080	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643778	37643778	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37643778G>A	ENST00000356958.4	-	5	1281	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZNF585A_ENST00000355533.2_Silent_p.L286L|ZNF585A_ENST00000392157.2_Silent_p.L286L|ZNF585A_ENST00000292841.5_Silent_p.L286L|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTGTAACGAGGTTGGAAT	0.398000													35	98					0	0	0.003271	0	0
N4BP2	55728	broad.mit.edu	37	4	40104726	40104726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:40104726C>T	ENST00000261435.6	+	4	1677	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	421						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAGTGCTTATCAAGTACAAGA	0.413000													9	52					0	0	0.006214	0	0
MROH2B	133558	broad.mit.edu	37	5	41018804	41018804	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41018804C>T	ENST00000399564.4	-	26	3112	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E443K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTAAACATTTCTTGACAGTCC	0.398000													17	40					0	0	0.004990	0	0
CXCR1	3577	broad.mit.edu	37	2	219029138	219029138	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:219029138G>A	ENST00000295683.2	-	2	917	c.797C>T	c.(796-798)aCc>aTc	p.T266I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	266					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CCTCATGAGGGTGTCTGCCAG	0.592000													28	68					0	0	0.005443	0	0
JPH4	84502	broad.mit.edu	37	14	24040243	24040243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:24040243G>A	ENST00000397118.3	-	6	2599	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	JPH4_ENST00000356300.4_Missense_Mutation_p.P566L|JPH4_ENST00000544177.1_Missense_Mutation_p.P231L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	566					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CATGGCGATGGGCTCAGGCTC	0.682000													15	32					0	0	0.002450	0	0
OR51T1	401665	broad.mit.edu	37	11	4903321	4903321	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4903321C>T	ENST00000380378.1	+	1	273	c.273C>T	c.(271-273)ttC>ttT	p.F91F	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F64F|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTATTATTTCCTCTCCATGC	0.468000													21	64					0	0	0.002780	0	0
COL5A2	1290	broad.mit.edu	37	2	189901516	189901516	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:189901516A>G	ENST00000374866.3	-	52	4213	c.3939T>C	c.(3937-3939)atT>atC	p.I1313I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1313	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTTAGGATCAATCCAGTATT	0.338000													10	16					0	0	0.001368	0	0
OR2M7	391196	broad.mit.edu	37	1	248487007	248487007	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248487007G>A	ENST00000317965.2	-	1	892	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGCTATAAATGAGAGGATTCA	0.423000													12	48					0	0	0.000978	0	0
STRA8	346673	broad.mit.edu	37	7	134925449	134925449	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:134925449C>T	ENST00000275764.3	+	2	239	c.239C>T	c.(238-240)tCt>tTt	p.S80F		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	80					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TACTCTCAGTCTGATCTCATA	0.602000													69	37					0	0	0.003610	0	0
LPAR4	2846	broad.mit.edu	37	X	78011197	78011197	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:78011197C>T	ENST00000435339.2	+	2	1236	c.831C>T	c.(829-831)tcC>tcT	p.S277S	LPAR4_ENST00000373301.2_Silent_p.S277S	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	277						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGGTGCGCTCCCAAGCTATTA	0.408000													14	4					0	0	0.001855	0	0
XKR5	389610	broad.mit.edu	37	8	6682705	6682705	+	RNA	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:6682705A>G	ENST00000518724.1	-	0	559							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATATCTGTGAAGTCTGAGGCT	0.562000													18	42					0	0	0.002780	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327569	49327569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49327569G>A	ENST00000559471.1	-	3	753	c.490C>T	c.(490-492)Cga>Tga	p.R164*	SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.R164*	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	164										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTCTGCTTCGATGGCTGGAC	0.413000													12	53					0	0	0.002450	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999659	45999659	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45999659C>G	ENST00000400372.1	-	1	822	c.797G>C	c.(796-798)tGc>tCc	p.C266S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	266						keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGCGGGAGCACGCGGGGCG	0.687000													14	29					0	0	0.004007	0	0
TUBB	203068	broad.mit.edu	37	6	30690766	30690766	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30690766C>T	ENST00000396389.1	+	3	777	c.184C>T	c.(184-186)Cct>Tct	p.P62S	TUBB_ENST00000435534.1_Missense_Mutation_p.P80S|TUBB_ENST00000327892.8_Missense_Mutation_p.P80S|TUBB_ENST00000396384.1_Missense_Mutation_p.P8S|TUBB_ENST00000330914.3_Missense_Mutation_p.P8S			P07437	TBB5_HUMAN	tubulin, beta class I	80					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCGCTCAGGTCCTTTTGGCCA	0.428000													33	79					0	0	0.005524	0	0
JARID2	3720	broad.mit.edu	37	6	15468907	15468907	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:15468907C>A	ENST00000341776.2	+	5	872	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	JARID2_ENST00000397311.3_Missense_Mutation_p.P38T|JARID2_ENST00000541660.1_Missense_Mutation_p.P172T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	210					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCAGTCGACCCCCAGGAAAGG	0.478000													26	49					2.65835e-16	3.08002e-16	0.007291	1	0
ILF3	3609	broad.mit.edu	37	19	10792729	10792729	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10792729C>T	ENST00000449870.1	+	12	1558	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	ILF3_ENST00000420083.1_Missense_Mutation_p.P414L|ILF3_ENST00000318511.3_Missense_Mutation_p.P414L|ILF3_ENST00000407004.3_Missense_Mutation_p.P414L|ILF3_ENST00000589998.1_Missense_Mutation_p.P414L|ILF3_ENST00000590261.1_Missense_Mutation_p.P414L|ILF3_ENST00000588657.1_Missense_Mutation_p.P414L|ILF3_ENST00000592763.1_Missense_Mutation_p.P414L|ILF3_ENST00000250241.8_Missense_Mutation_p.P414L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	414	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGCTGAAGCCAGGGCTGCAG	0.572000													18	39					0	0	0.007413	0	0
OR4D9	390199	broad.mit.edu	37	11	59283128	59283128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:59283128C>T	ENST00000329328.3	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCGTGGTGACCCTGCATTTC	0.557000													38	132					0	0	0.006999	0	0
IL37	27178	broad.mit.edu	37	2	113676317	113676317	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:113676317G>A	ENST00000263326.3	+	5	630	c.588G>A	c.(586-588)agG>agA	p.R196R	IL37_ENST00000352179.3_Silent_p.R175R|IL37_ENST00000353225.3_Silent_p.R156R|IL37_ENST00000311328.2_Silent_p.R170R|IL37_ENST00000349806.3_Silent_p.R135R	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	196					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TTGAGAACAGGAAACACATTG	0.493000													16	27					0	0	0.004007	0	0
ATAD2	29028	broad.mit.edu	37	8	124408489	124408489	+	Silent	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124408489T>G	ENST00000287394.5	-	1	216	c.109A>C	c.(109-111)Agg>Cgg	p.R37R	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGAGCCGCCTCCGGCCGATG	0.706000													4	6					0	0	0.009096	0	0
SGK223	157285	broad.mit.edu	37	8	8235327	8235327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:8235327G>A	ENST00000520004.1	-	3	856	c.592C>T	c.(592-594)Caa>Taa	p.Q198*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.Q198*			Q86YV5	SG223_HUMAN		198							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGCCGGTCTTGGTAAGGAAAT	0.617000													36	79					0	0	0.005524	0	0
FAT3	120114	broad.mit.edu	37	11	92086953	92086953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:92086953G>A	ENST00000298047.6	+	1	1692	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	FAT3_ENST00000541502.1_Missense_Mutation_p.E559K|FAT3_ENST00000525166.1_Missense_Mutation_p.E409K|FAT3_ENST00000409404.2_Missense_Mutation_p.E559K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	559	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACCGCCATGAAAGTGAGGT	0.423000										TCGA Ovarian(4;0.039)			166	353					0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47884669	47884669	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47884669G>A	ENST00000289672.2	-	33	5211	c.5161C>T	c.(5161-5163)Cgc>Tgc	p.R1721C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1721	GPS.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCGCGAGGCGATGGTAGCTA	0.463000													12	37					0	0	0.001855	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252312	145252312	+	Nonsense_Mutation	SNP	G	G	A	rs151087704	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:145252312G>A	ENST00000377976.1	-	1	219	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	74										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GAGCACATCTGGGGCCTGGGG	0.512000													34	71					0	0	0.002836	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482338	233482338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:233482338C>T	ENST00000366624.3	+	2	1217	c.956C>T	c.(955-957)tCc>tTc	p.S319F	MLK4_ENST00000366623.3_Missense_Mutation_p.S319F	NM_032435.2	NP_115811.2																					ATCAAGTCTTCCTTGTTTTCT	0.478000													5	18					0	0	0.000602	0	0
CMTR1	23070	broad.mit.edu	37	6	37426561	37426561	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:37426561C>T	ENST00000373451.4	+	9	1115	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		317					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTCTGCTTCCAGTGAACTCT	0.507000													30	56					0	0	0.003271	0	0
EXPH5	23086	broad.mit.edu	37	11	108409889	108409889	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:108409889C>T	ENST00000265843.4	-	3	415	c.305G>A	c.(304-306)aGa>aAa	p.R102K	EXPH5_ENST00000525344.1_Missense_Mutation_p.R95K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R26K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	102					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATTTTTAGATCTTGATGTAGG	0.338000													27	49					0	0	0.007291	0	0
TFPT	29844	broad.mit.edu	37	19	54611389	54611389	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:54611389G>A	ENST00000391759.1	-	5	991	c.586C>T	c.(586-588)Cca>Tca	p.P196S	TFPT_ENST00000391757.1_Silent_p.C183C|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.P187S	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	196					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCATCCCGTGGCACTCGCCGC	0.692000			T	TCF3	pre-B ALL								16	47					0	0	0.008871	0	0
CDH18	1016	broad.mit.edu	37	5	19612677	19612677	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:19612677C>T	ENST00000507958.1	-	8	1667	c.677G>A	c.(676-678)aGa>aAa	p.R226K	CDH18_ENST00000511273.1_Missense_Mutation_p.R226K|CDH18_ENST00000506372.1_Missense_Mutation_p.R226K|CDH18_ENST00000274170.4_Missense_Mutation_p.R226K|CDH18_ENST00000502796.1_Missense_Mutation_p.R226K|CDH18_ENST00000382275.1_Missense_Mutation_p.R226K			Q13634	CAD18_HUMAN	cadherin 18, type 2	226	Cadherin 2.			R -> G (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGGCTTCTCTGTCCATGTT	0.383000													15	28					0	0	0.004007	0	0
LGI1	9211	broad.mit.edu	37	10	95517914	95517914	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:95517914A>T	ENST00000371418.4	+	1	273	c.13A>T	c.(13-15)Aga>Tga	p.R5*	LGI1_ENST00000371413.3_Nonsense_Mutation_p.R5*|LGI1_ENST00000542308.1_Nonsense_Mutation_p.R5*|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	5					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAATCAGAAAGAAGCAAAAG	0.443000													6	21					0	0	0.003080	0	0
KCNF1	3754	broad.mit.edu	37	2	11052667	11052667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11052667G>A	ENST00000295082.1	+	1	605	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	39						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTGTACGGGGACCTCCTCAG	0.662000													7	23					0	0	0.004482	0	0
NPAP1	23742	broad.mit.edu	37	15	24923425	24923425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:24923425C>T	ENST00000329468.2	+	1	2885	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCAGACACCTCCACTTTAGTG	0.532000													52	77					0	0	0.003610	0	0
PROKR2	128674	broad.mit.edu	37	20	5294791	5294791	+	Silent	SNP	G	G	A	rs139296723		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:5294791G>A	ENST00000546004.1	-	2	471	c.225C>T	c.(223-225)atC>atT	p.I75I	PROKR2_ENST00000217270.3_Silent_p.I75I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	75						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGAGGGCAGCGATAAAGACAA	0.552000										HNSCC(71;0.22)			25	62					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9058908	9058908	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9058908T>G	ENST00000397910.4	-	3	28741	c.28538A>C	c.(28537-28539)cAc>cCc	p.H9513P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9515	Ser-rich.|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						TTCAAAAACGTGAATTGCCTC	0.483000													44	87					0	0	0.003610	0	0
SPARC	6678	broad.mit.edu	37	5	151051159	151051159	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:151051159G>A	ENST00000231061.4	-	5	618	c.305C>T	c.(304-306)cCa>cTa	p.P102L		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	102	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	AATGGGGGCTGGGCAGCTGGT	0.592000													50	113					0	0	0.003610	0	0
GALNT2	2590	broad.mit.edu	37	1	230338955	230338955	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:230338955C>T	ENST00000366672.4	+	3	365	c.293C>T	c.(292-294)cCt>cTt	p.P98L	GALNT2_ENST00000541865.1_Missense_Mutation_p.P8L|GALNT2_ENST00000543760.1_Missense_Mutation_p.P60L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	98					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGCAGGACCCTTACGCCCGC	0.547000													23	92					0	0	0.003954	0	0
PRB2	653247	broad.mit.edu	37	12	11546609	11546609	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11546609G>A	ENST00000389362.4	-	3	438	c.403C>T	c.(403-405)Cct>Tct	p.P135S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGAGGA	0.602000													125	165					0	0	0.003610	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957944	51957944	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51957944A>G	ENST00000321424.3	-	5	1208	c.1142T>C	c.(1141-1143)tTc>tCc	p.F381S	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.F288S|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.F272S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	381					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCACATGATGAAGATGATGCA	0.597000													28	69					0	0	0.009535	0	0
ZNF536	9745	broad.mit.edu	37	19	31039043	31039043	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:31039043G>A	ENST00000355537.3	+	4	2664	c.2517G>A	c.(2515-2517)agG>agA	p.R839R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R839S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCCTGAGGGGGGCCTTCA	0.582000													38	75					0	0	0.005524	0	0
VAMP7	6845	broad.mit.edu	37	X	155127842	155127842	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155127842G>A	ENST00000286448.6	+	4	436	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	VAMP7_ENST00000460621.1_Missense_Mutation_p.G50S|VAMP7_ENST00000262640.6_Missense_Mutation_p.G91S|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	91	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACTACTTACGGTTCAAGAGC	0.403000													66	79					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26164884	26164884	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:26164884A>G	ENST00000335473.7	+	4	1251	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	MYO18B_ENST00000407587.2_Missense_Mutation_p.K334R|MYO18B_ENST00000536101.1_Missense_Mutation_p.K334R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	334						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCCAGAATAAGAAGGACAAA	0.552000													4	14					0	0	0.009096	0	0
ANK3	288	broad.mit.edu	37	10	61833102	61833102	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:61833102C>T	ENST00000280772.1	-	37	7728	c.7537G>A	c.(7537-7539)Gaa>Aaa	p.E2513K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2513					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGAGAATTTCTTTTTTGGGG	0.418000													29	41					0	0	0.002445	0	0
PCDH18	54510	broad.mit.edu	37	4	138442640	138442640	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:138442640G>A	ENST00000344876.4	-	4	3337	c.2951C>T	c.(2950-2952)tCc>tTc	p.S984F	PCDH18_ENST00000510305.1_Missense_Mutation_p.S195F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S983F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S164F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S763F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	984	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAAAGGTGGAAAAACTCTT	0.522000													13	44					0	0	0.001368	0	0
ATP1A2	477	broad.mit.edu	37	1	160098476	160098476	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160098476G>A	ENST00000361216.3	+	9	1141	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R351Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	351					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R351Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGCATGGCACGGAAGAACTGC	0.577000													9	52					0	0	0.000978	0	0
FARP1	10160	broad.mit.edu	37	13	99047617	99047617	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99047617C>T	ENST00000376586.2	+	13	1637	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	FARP1_ENST00000319562.6_Missense_Mutation_p.P434L|FARP1_ENST00000595437.1_Missense_Mutation_p.P434L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	434					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAGAAGCCCCGCGGGTAAC	0.692000													10	16					0	0	0.006214	0	0
EXTL1	2134	broad.mit.edu	37	1	26361662	26361662	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:26361662G>A	ENST00000374280.3	+	11	2722	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	619					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGCGCCTGGGGGCCCGGG	0.622000													38	60					0	0	0.003214	0	0
WWC1	23286	broad.mit.edu	37	5	167894896	167894896	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:167894896A>G	ENST00000265293.4	+	22	3704	c.3202A>G	c.(3202-3204)Agg>Ggg	p.R1068G	WWC1_ENST00000521089.1_Missense_Mutation_p.R1074G	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1068	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAGATGATGAGGGCAGCTGC	0.607000													26	44					0	0	0.005443	0	0
TENM3	55714	broad.mit.edu	37	4	183594198	183594198	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:183594198T>A	ENST00000511685.1	+	7	1275	c.1152T>A	c.(1150-1152)gaT>gaA	p.D384E	TENM3_ENST00000406950.2_Missense_Mutation_p.D384E					teneurin transmembrane protein 3																		ACACCATAGATTCCGGAGAAC	0.358000													6	5					0	0	0.001168	0	0
CUBN	8029	broad.mit.edu	37	10	17156031	17156031	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:17156031G>A	ENST00000377833.4	-	8	943	c.878C>T	c.(877-879)cCa>cTa	p.P293L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	293	EGF-like 3; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTACCTGTTGGACAGGCCCC	0.527000													5	8					0	0	0.001984	0	0
CD33	945	broad.mit.edu	37	19	51729138	51729138	+	Silent	SNP	C	C	T	rs147729352		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51729138C>T	ENST00000436584.2	+	2	172	c.117C>T	c.(115-117)tcC>tcT	p.S39S	CD33_ENST00000391796.3_Silent_p.S166S|CD33_ENST00000421133.2_Silent_p.S39S|CD33_ENST00000262262.4_Silent_p.S166S			P20138	CD33_HUMAN	CD33 molecule	166	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCTCTGTGTCCTGGGCCTGTG	0.587000													28	76					0	0	0.006320	0	0
BCL6B	255877	broad.mit.edu	37	17	6930094	6930094	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:6930094C>T	ENST00000293805.5	+	7	1217	c.1125C>T	c.(1123-1125)agC>agT	p.S375S		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	375						nucleus	zinc ion binding			skin(1)	1						AAACGCACAGCCGCATCCATT	0.567000													40	49					0	0	0.009718	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170008	20170008	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:20170008G>A	ENST00000338912.5	-	0	263																											CCCTGGTTATGGTGACTCTGC	0.542000													18	102					0	0	0.004990	0	0
RNF216	54476	broad.mit.edu	37	7	5769131	5769131	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:5769131C>T	ENST00000425013.2	-	7	1374	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	RNF216_ENST00000389902.3_Missense_Mutation_p.V441M	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	384					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTACTGAGCACTTTGAAGTCG	0.488000													31	70					0	0	0.009535	0	0
NLRP8	126205	broad.mit.edu	37	19	56485109	56485109	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56485109G>A	ENST00000291971.3	+	7	2697	c.2626G>A	c.(2626-2628)Gaa>Aaa	p.E876K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E857K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	876						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGCTTGGCAGAAAACGCCTT	0.502000													50	119					0	0	0.003610	0	0
TRIM3	10612	broad.mit.edu	37	11	6477646	6477646	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6477646G>A	ENST00000525074.1	-	6	1704	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	TRIM3_ENST00000537602.1_Missense_Mutation_p.S359F|TRIM3_ENST00000536344.1_Missense_Mutation_p.S318F|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.S437F|TRIM3_ENST00000359518.3_Missense_Mutation_p.S437F	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	437					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.S437Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGCCAGGGGACTTGACACG	0.667000													17	27					0	0	0.004007	0	0
FAT3	120114	broad.mit.edu	37	11	92257829	92257829	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:92257829C>T	ENST00000298047.6	+	2	3339	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	FAT3_ENST00000541502.1_Missense_Mutation_p.R1108W|FAT3_ENST00000525166.1_Missense_Mutation_p.R958W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1108W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1108	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTCTTGATCGGGAGACAAT	0.438000										TCGA Ovarian(4;0.039)			126	241					0	0	0.003610	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790920	8790920	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:8790920C>T	ENST00000447110.1	-	11	1821	c.1697G>A	c.(1696-1698)gGg>gAg	p.G566E	PIK3R5_ENST00000584803.1_Missense_Mutation_p.G566E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.G566E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	566					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGCTGGTCCCATGACTTCG	0.617000													12	8					0	0	0.001855	0	0
MTMR7	9108	broad.mit.edu	37	8	17188763	17188763	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:17188763C>T	ENST00000180173.5	-	7	795	c.761G>A	c.(760-762)gGg>gAg	p.G254E	MTMR7_ENST00000521857.1_Missense_Mutation_p.G254E	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	254	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATAGCCTTTCCCTGCAGCACG	0.383000													8	27					0	0	0.003080	0	0
DHX34	9704	broad.mit.edu	37	19	47885322	47885322	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:47885322C>T	ENST00000328771.4	+	17	3733	c.3384C>T	c.(3382-3384)ttC>ttT	p.F1128F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1128						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAAGGACTTCCTCTTTACAC	0.642000													21	34					0	0	0.002299	0	0
NADK	65220	broad.mit.edu	37	1	1688705	1688705	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1688705G>A	ENST00000344463.4	-	6	841	c.620C>T	c.(619-621)tCc>tTc	p.S207F	NADK_ENST00000492768.1_5'UTR|NADK_ENST00000341426.5_Missense_Mutation_p.S103F|NADK_ENST00000341991.3_Missense_Mutation_p.S103F|NADK_ENST00000342348.5_Missense_Mutation_p.S71F|NADK_ENST00000378625.1_Missense_Mutation_p.S207F			O95544	NADK_HUMAN	NAD kinase	103					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCTCTTTGGGGACTTGTTCCA	0.587000													44	107					0	0	0.003610	0	0
OR6N2	81442	broad.mit.edu	37	1	158746626	158746626	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158746626G>A	ENST00000339258.1	-	1	799	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGGGTCAGGGAATAGCTCTT	0.428000													8	44					0	0	0.004482	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720917	40720917	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:40720917C>T	ENST00000253055.3	+	10	2871	c.2583C>T	c.(2581-2583)ccC>ccT	p.P861P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	861					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCCCGACCCCCAGGCCCTGT	0.701000													17	22					0	0	0.007413	0	0
HHIP	64399	broad.mit.edu	37	4	145581006	145581006	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:145581006T>C	ENST00000434550.2	+	4	1351	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000296575.3_Intron|HHIP_ENST00000511314.1_3'UTR			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	148						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		Ctttttaaattttatttattt	0.313000													11	35					0	0	0.008291	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318512	79318512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:79318512G>A	ENST00000428286.1	-	9	8140	c.6940C>T	c.(6940-6942)Cag>Tag	p.Q2314*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.Q2673*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2673					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTGCAGCTGGGGACCCTCA	0.557000													12	17					0	0	0.001368	0	0
UBR4	23352	broad.mit.edu	37	1	19479878	19479878	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:19479878G>A	ENST00000375267.2	-	46	6752	c.6749C>T	c.(6748-6750)tCc>tTc	p.S2250F	UBR4_ENST00000375254.3_Missense_Mutation_p.S2250F|UBR4_ENST00000375226.2_Missense_Mutation_p.S2250F|UBR4_ENST00000375217.2_Missense_Mutation_p.S2250F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2250					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCAGTAGGAGGTGTTCTC	0.537000													37	77					0	0	0.004878	0	0
CHD4	1108	broad.mit.edu	37	12	6682350	6682350	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:6682350A>G	ENST00000309577.6	-	37	5694	c.5531T>C	c.(5530-5532)aTg>aCg	p.M1844T	CHD4_ENST00000544484.1_Missense_Mutation_p.M1841T|CHD4_ENST00000544040.1_Missense_Mutation_p.M1809T|CHD4_ENST00000357008.2_Missense_Mutation_p.M1816T			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1816	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTTGAGGGCCATGGAAGGGTG	0.532000													31	97					0	0	0.002445	0	0
OR4D5	219875	broad.mit.edu	37	11	123811214	123811214	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:123811214C>T	ENST00000307033.2	+	1	965	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGATCATGGCCATGAAGAAGC	0.498000													45	79					0	0	0.003610	0	0
INPPL1	3636	broad.mit.edu	37	11	71946225	71946225	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:71946225C>T	ENST00000541756.1	+	22	2685	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	INPPL1_ENST00000538751.1_Silent_p.S585S|INPPL1_ENST00000298229.2_Silent_p.S827S			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	827					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTCAAGTCCATGGATGGCT	0.547000													15	51					0	0	0.003163	0	0
LPHN2	23266	broad.mit.edu	37	1	82421744	82421744	+	Splice_Site	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:82421744G>T	ENST00000370728.1	+	13	2650	c.2005_splice	c.e13+1	p.V669_splice	LPHN2_ENST00000370721.1_Splice_Site_p.V594_splice|LPHN2_ENST00000359929.3_Splice_Site_p.V656_splice|LPHN2_ENST00000370725.1_Splice_Site_p.V669_splice|LPHN2_ENST00000335786.5_Splice_Site_p.V669_splice|LPHN2_ENST00000370717.2_Splice_Site_p.V669_splice|LPHN2_ENST00000370730.1_Splice_Site_p.V669_splice|LPHN2_ENST00000370723.1_Splice_Site_p.V656_splice|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Splice_Site_p.V669_splice|LPHN2_ENST00000319517.6_Splice_Site_p.V656_splice|LPHN2_ENST00000370715.1_Splice_Site_p.V656_splice|LPHN2_ENST00000394879.1_Splice_Site_p.V656_splice|LPHN2_ENST00000370713.1_Splice_Site_p.V656_splice|LPHN2_ENST00000271029.4_Splice_Site_p.V669_splice			O95490	LPHN2_HUMAN	latrophilin 2	669					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGAAAATATTGGTAAGTGAAT	0.358000													11	14					3.86212e-05	4.44481e-05	0.008291	1	0
COL1A1	1277	broad.mit.edu	37	17	48266114	48266114	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:48266114G>A	ENST00000225964.5	-	42	3206	c.3088C>T	c.(3088-3090)Cct>Tct	p.P1030S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1030	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTGGCGCCAGGAGAACCGTCT	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						35	42					0	0	0.005524	0	0
DNAH10	196385	broad.mit.edu	37	12	124305258	124305258	+	Missense_Mutation	SNP	G	G	A	rs142727450	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:124305258G>A	ENST00000409039.3	+	23	3803	c.3778G>A	c.(3778-3780)Gaa>Aaa	p.E1260K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1260	Stem (By similarity).				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)		AGTGCAGAAGGAAATGAGTGG	0.483000													32	83					0	0	0.006230	0	0
CDH7	1005	broad.mit.edu	37	18	63547807	63547807	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:63547807G>A	ENST00000397968.2	+	12	2461	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	CDH7_ENST00000323011.3_Missense_Mutation_p.D679N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGTCATCCGAGACACCAAGAC	0.473000													20	38					0	0	0.008871	0	0
GDNF	2668	broad.mit.edu	37	5	37816031	37816031	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:37816031A>C	ENST00000326524.2	-	3	557	c.358T>G	c.(358-360)Tta>Gta	p.L120V	GDNF_ENST00000381826.4_Missense_Mutation_p.L111V|GDNF_ENST00000344622.4_Missense_Mutation_p.L94V|GDNF_ENST00000427982.1_Missense_Mutation_p.L137V|GDNF_ENST00000515058.1_Missense_Mutation_p.L94V	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	120					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					ATTGCAGTTAAGACACAACCC	0.512000													25	97					0	0	0.003330	0	0
TLL1	7092	broad.mit.edu	37	4	167020676	167020676	+	Silent	SNP	C	C	T	rs115401178	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:167020676C>T	ENST00000061240.2	+	20	3551	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	TLL1_ENST00000507499.1_Silent_p.S991S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	968	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGTGGATCCGGGGTAAATA	0.423000													20	59					0	0	0.010504	0	0
USH2A	7399	broad.mit.edu	37	1	216495296	216495296	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:216495296C>T	ENST00000366943.2	-	9	1959	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000307340.3_Missense_Mutation_p.D525N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	525	Laminin EGF-like 1.				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)		TCGCAGTTATCGGCATGACCA	0.443000										HNSCC(13;0.011)			37	53					0	0	0.008740	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220983	140220983	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140220983T>A	ENST00000531613.1	+	1	77	c.77T>A	c.(76-78)gTg>gAg	p.V26E	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V26E	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGAAGGTGGGGAGCGGC	0.612000													22	44					0	0	0.001882	0	0
KIF16B	55614	broad.mit.edu	37	20	16387034	16387034	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:16387034G>A	ENST00000354981.2	-	16	1837	c.1680C>T	c.(1678-1680)ctC>ctT	p.L560L	KIF16B_ENST00000355755.3_Silent_p.L560L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.L560L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	560					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTCTCCCTGAGCTTGGCGG	0.473000													58	175					0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24199265	24199265	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24199265A>T	ENST00000265769.4	+	16	1935	c.1825A>T	c.(1825-1827)Aac>Tac	p.N609Y	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.N356Y|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	609	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGTGGCGATAACAAGGTAAG	0.398000													35	50					0	0	0.003755	0	0
ABCB1	5243	broad.mit.edu	37	7	87170762	87170762	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:87170762C>T	ENST00000265724.3	-	19	2647	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D680N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	744	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTTCAGGATCATCAATTCTT	0.353000													44	41					0	0	0.003610	0	0
TNC	3371	broad.mit.edu	37	9	117849554	117849554	+	Splice_Site	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:117849554T>C	ENST00000350763.4	-	3	869		c.e3-2		TNC_ENST00000537320.1_Splice_Site|TNC_ENST00000535648.1_Splice_Site|TNC_ENST00000340094.3_Splice_Site|TNC_ENST00000346706.3_Splice_Site|TNC_ENST00000341037.4_Splice_Site|TNC_ENST00000423613.2_Splice_Site|TNC_ENST00000345230.3_Splice_Site|TNC_ENST00000542877.1_Splice_Site	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C						cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAGCGGCCTGCAACAAAAG	0.542000													12	13					0	0	0.001368	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612430	54612430	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:54612430C>T	ENST00000302287.3	+	2	601	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VSTM2A_ENST00000404951.1_Silent_p.F65F|VSTM2A_ENST00000402613.3_Silent_p.F65F|VSTM2A_ENST00000407838.3_Silent_p.F65F|VSTM2A_ENST00000402026.2_Silent_p.F64F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	65	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AATGGTGGTTCCTGCGGGGGC	0.716000													12	34					0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	38996033	38996033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38996033G>A	ENST00000355481.4	+	53	8526	c.8395G>A	c.(8395-8397)Gag>Aag	p.E2799K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2799K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2799K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2799	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACCTTTTCAGAGAAGGTGAC	0.517000													4	7					0	0	0.009096	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979178	41979178	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41979178G>A	ENST00000372584.1	-	7	6728	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1905V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1905V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1905V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1905					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGAGGCGGGGGCATCTGGGGG	0.687000													4	19					0	0	0.009096	0	0
PROL1	58503	broad.mit.edu	37	4	71275399	71275399	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:71275399G>A	ENST00000399575.2	+	3	528	c.354G>A	c.(352-354)agG>agA	p.R118R	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	118	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACCTATTAGGATATTAAAAC	0.403000													21	94					0	0	0.002780	0	0
LIPE	3991	broad.mit.edu	37	19	42931082	42931082	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42931082C>T	ENST00000244289.4	-	1	496	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	74					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCTCTAGGTTCCTTCTGGGAT	0.522000													76	156					0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48390440	48390440	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:48390440C>T	ENST00000224600.4	-	1	551	c.438G>A	c.(436-438)atG>atA	p.M146I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	146	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTCCCCCATCATGCTCAGCA	0.647000													37	35					0	0	0.004289	0	0
COL6A3	1293	broad.mit.edu	37	2	238303473	238303473	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238303473C>T	ENST00000295550.4	-	3	918	c.466G>A	c.(466-468)Gat>Aat	p.D156N	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.D156N|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.D156N|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	156	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAAGGCCATCCTTCGAGTGT	0.498000													23	48					0	0	0.002780	0	0
VPS8	23355	broad.mit.edu	37	3	184689489	184689489	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:184689489C>T	ENST00000437079.3	+	40	3540	c.3369C>T	c.(3367-3369)acC>acT	p.T1123T	VPS8_ENST00000446204.2_Silent_p.T1031T|VPS8_ENST00000436792.2_Silent_p.T1121T|VPS8_ENST00000287546.4_Silent_p.T1123T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1123							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGGTGGAGACCATTGCTCTTT	0.383000													11	21					0	0	0.002450	0	0
STAB1	23166	broad.mit.edu	37	3	52550252	52550252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52550252G>A	ENST00000321725.6	+	38	4218	c.4142G>A	c.(4141-4143)gGa>gAa	p.G1381E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1381	Laminin EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AACTGCACCGGAGGTGAGGAC	0.687000													18	23					0	0	0.007413	0	0
BRINP3	339479	broad.mit.edu	37	1	190067226	190067226	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:190067226C>T	ENST00000367462.3	-	8	2454	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.R639R	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		741						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)					CAGATTGGATCCTCACCACCT	0.443000													23	78					0	0	0.001882	0	0
DSG2	1829	broad.mit.edu	37	18	29111134	29111134	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:29111134G>A	ENST00000261590.8	+	9	1408	c.1199G>A	c.(1198-1200)aGc>aAc	p.S400N		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	400	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTTAGCGAGAGCATGGATAGA	0.403000													16	59					0	0	0.006122	0	0
NPC1	4864	broad.mit.edu	37	18	21137137	21137137	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21137137G>A	ENST00000269228.5	-	7	1453	c.899C>T	c.(898-900)tCc>tTc	p.S300F	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S33F	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	300					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTGTACTCGGAGACAAAATA	0.383000													4	14					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179604270	179604270	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179604270C>T	ENST00000589042.1	-	48	13914	c.13690G>A	c.(13690-13692)Gaa>Aaa	p.E4564K	TTN_ENST00000359218.5_Missense_Mutation_p.E4326K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4201K|TTN_ENST00000342175.6_Missense_Mutation_p.E4393K|TTN_ENST00000591111.1_Missense_Mutation_p.E4247K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4247	Ig-like 25.						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)			TCTTGTTTTTCGTCAGAGACA	0.428000													33	64					0	0	0.003271	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75091075	75091075	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:75091075C>T	ENST00000395759.2	+	6	796	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.H122Y|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.H199Y|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.H199Y	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	199					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTGAAGATTCATACGCAGCT	0.393000													20	108					0	0	0.001882	0	0
GPR132	29933	broad.mit.edu	37	14	105518000	105518000	+	Silent	SNP	G	G	A	rs148183695		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105518000G>A	ENST00000329797.3	-	4	1385	c.474C>T	c.(472-474)acC>acT	p.T158T	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.T158T|GPR132_ENST00000392585.2_Silent_p.T149T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	158					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGAGGATGGCGGTCCTCCGGC	0.617000													18	37					0	0	0.007413	0	0
GRM5	2915	broad.mit.edu	37	11	88781001	88781001	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:88781001C>T	ENST00000418177.2	-	2	407	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	GRM5_ENST00000305447.4_Missense_Mutation_p.E14K|GRM5_ENST00000305432.5_Missense_Mutation_p.E14K|GRM5_ENST00000393294.3_Missense_Mutation_p.E14K|GRM5_ENST00000455756.2_Missense_Mutation_p.E14K|GRM5_ENST00000393297.1_Missense_Mutation_p.E14K			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	14					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGGACATCTTCTTTCAAAAGT	0.478000													14	26					0	0	0.004007	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171958	4171958	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:4171958G>A	ENST00000078445.2	+	10	1525	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000252587.3_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E459K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E458K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	460					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGAGACGAGCTGTGAGC	0.701000													4	5					0	0	0.000602	0	0
COL17A1	1308	broad.mit.edu	37	10	105819447	105819447	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105819447C>T	ENST00000353479.5	-	15	1461	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	COL17A1_ENST00000369733.3_Missense_Mutation_p.E391K|COL17A1_ENST00000393211.3_Missense_Mutation_p.E391K	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	391	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTTGCTTTTCTTTTTTTAGG	0.438000													15	36					0	0	0.001882	0	0
GTF2E1	2960	broad.mit.edu	37	3	120495385	120495385	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120495385A>T	ENST00000283875.5	+	4	859	c.766A>T	c.(766-768)Att>Ttt	p.I256F		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	256					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAATGTTGTCATTAACATGGA	0.502000													38	76					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179440268	179440268	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179440268C>T	ENST00000589042.1	-	326	70815	c.70591G>A	c.(70591-70593)Gaa>Aaa	p.E23531K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14591K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20963K|TTN_ENST00000460472.2_Missense_Mutation_p.E14466K|TTN_ENST00000342175.6_Missense_Mutation_p.E14658K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21890K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21890	Ig-like 119.						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)			GATGGTGCTTCAGAGGCTTTT	0.488000													106	228					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28457652	28457652	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:28457652G>A	ENST00000261609.7	-	43	6972	c.6864C>T	c.(6862-6864)aaC>aaT	p.N2288N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2288					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAGCGAGGTTCACCAACT	0.498000													16	44					0	0	0.007413	0	0
C8orf34	116328	broad.mit.edu	37	8	69381046	69381046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:69381046C>T	ENST00000337103.4	+	3	1986	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	C8orf34_ENST00000348340.2_Missense_Mutation_p.L157F|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.L157F|C8orf34_ENST00000518698.1_Missense_Mutation_p.L243F			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	157					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTTGAGAATCTCTCTCGAAG	0.388000													4	29					0	0	0.000602	0	0
MS4A15	219995	broad.mit.edu	37	11	60531206	60531206	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:60531206G>A	ENST00000405633.3	+	0	79				MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_De_novo_Start_InFrame	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15							integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CTCTGAGCACGATGTCTGCAG	0.517000													32	65					0	0	0.002445	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115711	220115711	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220115711G>A	ENST00000392088.2	-	4	1220	c.665C>T	c.(664-666)tCc>tTc	p.S222F	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.S237F	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	237					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGTGATGGAGGAGACAAT	0.567000													19	46					0	0	0.008871	0	0
TFAP4	7023	broad.mit.edu	37	16	4310097	4310097	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:4310097G>A	ENST00000204517.6	-	6	1144	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	272					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTACCTGCACGATGGTGTCCA	0.582000													31	36					0	0	0.003755	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328395	21328395	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:21328395G>A	ENST00000444326.1	+	0	511																											GAAGTACTGTGGTTCAGGGTA	0.373000													45	50					0	0	0.009718	0	0
FAM227B	196951	broad.mit.edu	37	15	49663592	49663592	+	Silent	SNP	G	G	A	rs145082626		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49663592G>A	ENST00000299338.6	-	12	1320	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TATTGAAGTCGATACCTAAAA	0.328000													14	87					0	0	0.003163	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236498	26236498	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:26236498C>T	ENST00000354667.4	-	5	608	c.440G>A	c.(439-441)aGg>aAg	p.R147K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R135K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	147	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCAGACTGCCTATCAGTAAT	0.358000			T	ETV1	prostate								46	121					0	0	0.003610	0	0
HTR1A	3350	broad.mit.edu	37	5	63256778	63256778	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:63256778C>T	ENST00000323865.3	-	1	1002	c.769G>A	c.(769-771)Gag>Aag	p.E257K	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	257					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCCCCGACTCTCCATTCACA	0.652000													26	67					0	0	0.003330	0	0
CRYBB1	1414	broad.mit.edu	37	22	26997875	26997875	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:26997875G>A	ENST00000215939.2	-	5	673	c.543C>T	c.(541-543)gaC>gaT	p.D181D		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	181	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGCCCACGCGGTCACTGAAGC	0.597000													24	44					0	0	0.003330	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189487	47189487	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47189487A>T	ENST00000524782.1	-	12	1406	c.1178T>A	c.(1177-1179)aTc>aAc	p.I393N	ARFGAP2_ENST00000319543.6_Missense_Mutation_p.I124N|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.I257N|ARFGAP2_ENST00000395449.3_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.I286N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	393	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GATGCTTGAGATGGTCACTTC	0.453000													7	9					0	0	0.001984	0	0
TAB2	23118	broad.mit.edu	37	6	149720314	149720314	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:149720314C>T	ENST00000367456.1	+	7	2510	c.1933C>T	c.(1933-1935)Ccc>Tcc	p.P645S	TAB2_ENST00000538427.1_Missense_Mutation_p.P645S|TAB2_ENST00000286332.5_Missense_Mutation_p.P645S|TAB2_ENST00000536230.1_Missense_Mutation_p.P613S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	645					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCCACCAAAACCCAAAGGTTA	0.323000													11	28					0	0	0.001855	0	0
NBAS	51594	broad.mit.edu	37	2	15555702	15555702	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:15555702G>A	ENST00000281513.5	-	25	2930	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	969										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTTCAGGGGAAATTTTAAG	0.358000													29	79					0	0	0.002445	0	0
TBCD	6904	broad.mit.edu	37	17	80847546	80847546	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:80847546C>T	ENST00000355528.4	+	16	1666	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	TBCD_ENST00000539345.2_Silent_p.A512A|TBCD_ENST00000397466.2_Silent_p.A126A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	512					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.A512A(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTCCGCAGGCCGCCTTCCAGG	0.502000													16	28					0	0	0.007413	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157523	26157523	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:26157523G>T	ENST00000325250.1	+	2	608	c.421G>T	c.(421-423)Gat>Tat	p.D141Y		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	141	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TATCAGGAAGGATAAGTGTCA	0.423000													3	2					0.004672	0.00535301	0.004672	1	0
MGAM	8972	broad.mit.edu	37	7	141770800	141770800	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141770800G>A	ENST00000475668.2	+	44	5122	c.5068G>A	c.(5068-5070)Gat>Aat	p.D1690N	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1690	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGGGTGTGGATATTAATGC	0.542000													39	55					0	0	0.003214	0	0
VPS18	57617	broad.mit.edu	37	15	41194915	41194915	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41194915A>T	ENST00000220509.5	+	5	2637	c.2298A>T	c.(2296-2298)gaA>gaT	p.E766D	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	766					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGGTGCAGGAAGAGGAAGATG	0.562000													6	31					0	0	0.001984	0	0
ARAP2	116984	broad.mit.edu	37	4	36168569	36168569	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:36168569G>A	ENST00000303965.4	-	10	2447	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	653	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTCCTGTAGGGAGTGATTAT	0.358000													11	42					0	0	0.000978	0	0
NT5C3B	115024	broad.mit.edu	37	17	39985093	39985093	+	Silent	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39985093C>A	ENST00000269534.8	-	7	593	c.492G>T	c.(490-492)gtG>gtT	p.V164V	NT5C3B_ENST00000435506.2_Silent_p.V172V|NT5C3B_ENST00000521789.1_Silent_p.V139V	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		TGGGGTGGAACACTTTCATCT	0.458000													38	60					2.19358e-23	2.5463e-23	0.005524	1	0
CNR1	1268	broad.mit.edu	37	6	88854756	88854756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:88854756C>T	ENST00000537554.1	-	2	3800	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.E80K|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.E80K|CNR1_ENST00000428600.2_Missense_Mutation_p.E80K|CNR1_ENST00000369501.2_Missense_Mutation_p.E80K|CNR1_ENST00000468898.1_Missense_Mutation_p.E47K|CNR1_ENST00000549890.1_Missense_Mutation_p.E80K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	80					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTGTAAAATTCTGTAATGTTC	0.478000													18	26					0	0	0.010504	0	0
SLIT2	9353	broad.mit.edu	37	4	20618763	20618763	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:20618763G>A	ENST00000504154.1	+	35	4330	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E1352K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1356K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1373K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1360	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGAGTGCCAGGAAGGATGGAT	0.572000													22	37					0	0	0.003330	0	0
FGGY	55277	broad.mit.edu	37	1	60073487	60073487	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:60073487C>T	ENST00000371218.4	+	9	1100	c.916C>T	c.(916-918)Ccg>Tcg	p.P306S	FGGY_ENST00000303721.7_Missense_Mutation_p.P306S|FGGY_ENST00000371212.1_Missense_Mutation_p.P218S|FGGY_ENST00000371210.1_Missense_Mutation_p.P7S|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	306					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGCAAAGACCCGATTTTTGT	0.458000													24	72					0	0	0.003954	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395934	47395934	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47395934C>T	ENST00000310638.4	-	12	1444	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.T472T	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	471					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGTCAGGGCCGTGGCCACCT	0.542000													34	74					0	0	0.004878	0	0
SLC38A1	81539	broad.mit.edu	37	12	46592408	46592408	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46592408C>T	ENST00000398637.5	-	14	1816	c.1122_splice	c.e14+1	p.T374_splice	SLC38A1_ENST00000439706.1_Splice_Site_p.T374_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.T374_splice|SLC38A1_ENST00000546893.1_Splice_Site_p.T374_splice|SLC38A1_ENST00000552197.1_Splice_Site_p.T374_splice	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	374					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCTTACTCACCGTGAAAAATA	0.498000													9	26					0	0	0.006214	0	0
C2orf53	339779	broad.mit.edu	37	2	27360240	27360240	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27360240C>T	ENST00000335524.3	-	3	1483	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	320										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTGCTTCCTTCGGCCTT	0.667000													29	46					0	0	0.005443	0	0
WNK4	65266	broad.mit.edu	37	17	40940333	40940333	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40940333C>T	ENST00000246914.5	+	10	1969	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	650					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCTTCAGGCCTTAGCGATGT	0.577000													10	51					0	0	0.000978	0	0
SERINC5	256987	broad.mit.edu	37	5	79441966	79441966	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:79441966G>A	ENST00000507668.2	-	11	1335	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SERINC5_ENST00000509193.1_Silent_p.F393F|SERINC5_ENST00000512721.1_Silent_p.F395F|SERINC5_ENST00000512972.2_Silent_p.F395F	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	395					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGAAGAACACGAAGTGGAAGT	0.488000													51	109					0	0	0.003610	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115710	220115710	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220115710G>A	ENST00000392088.2	-	4	1221	c.666C>T	c.(664-666)tcC>tcT	p.S222S	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.S237S	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	237					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGTGATGGAGGAGACAA	0.562000													20	43					0	0	0.010504	0	0
ERC2	26059	broad.mit.edu	37	3	56468846	56468846	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:56468846G>A	ENST00000288221.6	-	2	445	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	64						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGATCACTCAGATACATGGGT	0.512000													42	105					0	0	0.009718	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667782	49667782	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:49667782G>A	ENST00000249601.4	-	5	900	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ARHGAP22_ENST00000417247.2_Silent_p.L112L|ARHGAP22_ENST00000435790.2_Silent_p.L208L|ARHGAP22_ENST00000417912.2_Silent_p.L218L|ARHGAP22_ENST00000374170.1_Silent_p.L112L|ARHGAP22_ENST00000374172.1_Silent_p.L93L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	202	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCTCACCAGGTTGGCCTGG	0.632000													59	66					0	0	0.003610	0	0
MAST4	375449	broad.mit.edu	37	5	66459555	66459555	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:66459555G>A	ENST00000404260.3	+	29	4865	c.4557G>A	c.(4555-4557)cgG>cgA	p.R1519R	MAST4_ENST00000403666.1_Silent_p.R1327R|MAST4_ENST00000261569.7_Silent_p.R1322R|MAST4_ENST00000405643.1_Silent_p.R1337R|MAST4_ENST00000403625.2_Silent_p.R1516R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1519						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGTCTCCCGGAAGGTGGGCC	0.652000													6	15					0	0	0.001168	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:128134804G>A	ENST00000368250.1	-	5	1243	c.745C>T	c.(745-747)Cct>Tct	p.P249S	THEMIS_ENST00000368248.2_Missense_Mutation_p.P328S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P293S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P328S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	328	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTCTTTTAGGAAAATTGCTT	0.458000													27	68					0	0	0.005443	0	0
HPS3	84343	broad.mit.edu	37	3	148884855	148884855	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148884855C>T	ENST00000296051.2	+	15	2764	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	HPS3_ENST00000460120.1_Missense_Mutation_p.S710F	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	875						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACATAGCTTCCATTATTCCG	0.403000									Hermansky-Pudlak syndrome				42	124					0	0	0.003214	0	0
RBMS2	5939	broad.mit.edu	37	12	56965498	56965498	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56965498C>T	ENST00000262031.5	+	5	496	c.401C>T	c.(400-402)cCc>cTc	p.P134L	RBMS2_ENST00000552247.2_Missense_Mutation_p.P134L|RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_Missense_Mutation_p.P9L	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	134					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GAACAGGACCCCACAAATTTA	0.493000													19	57					0	0	0.002780	0	0
GABRR3	200959	broad.mit.edu	37	3	97731256	97731256	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:97731256G>A	ENST00000472788.1	-	0	463					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TTGTATCATGGATGAAGGATC	0.438000													15	43					0	0	0.003163	0	0
CD1E	913	broad.mit.edu	37	1	158325692	158325692	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158325692G>A	ENST00000444681.2	+	3	697	c.404G>A	c.(403-405)gGa>gAa	p.G135E	CD1E_ENST00000368163.3_Missense_Mutation_p.G234E|CD1E_ENST00000368157.1_Missense_Mutation_p.G45E|CD1E_ENST00000368156.1_Missense_Mutation_p.G144E|CD1E_ENST00000368155.3_Missense_Mutation_p.G144E|CD1E_ENST00000368164.3_Missense_Mutation_p.G45E|CD1E_ENST00000368154.1_Missense_Mutation_p.G45E|CD1E_ENST00000368167.3_Missense_Mutation_p.G234E|CD1E_ENST00000452291.2_Missense_Mutation_p.G45E|CD1E_ENST00000368160.3_Missense_Mutation_p.G234E|CD1E_ENST00000368165.3_Missense_Mutation_p.G144E|CD1E_ENST00000368161.3_Missense_Mutation_p.G234E|CD1E_ENST00000434258.1_Missense_Mutation_p.G232E|CD1E_ENST00000368166.3_Missense_Mutation_p.G45E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	234					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGTCTCAGGATTCTACCCA	0.592000													10	52					0	0	0.006214	0	0
CCR6	1235	broad.mit.edu	37	6	167550636	167550636	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:167550636C>T	ENST00000341935.5	+	3	1470	c.918C>T	c.(916-918)ttC>ttT	p.F306F	CCR6_ENST00000349984.4_Silent_p.F306F|CCR6_ENST00000400926.2_Silent_p.F306F	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	306					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TCCTGGCTTTCCTGCACTGCT	0.473000													25	73					0	0	0.003954	0	0
PDHA2	5161	broad.mit.edu	37	4	96761623	96761623	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:96761623C>T	ENST00000295266.4	+	1	385	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	108					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CGGCATAAACCCCTCGGATCA	0.527000													19	90					0	0	0.007413	0	0
PKHD1	5314	broad.mit.edu	37	6	51927330	51927330	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:51927330C>T	ENST00000371117.3	-	14	1380	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G369R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	369					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G369R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAGGTTGTCCTTCCTGTGAC	0.493000													36	87					0	0	0.005524	0	0
APLP1	333	broad.mit.edu	37	19	36364555	36364555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36364555G>A	ENST00000221891.4	+	8	1188	c.996G>A	c.(994-996)tgG>tgA	p.W332*	APLP1_ENST00000586861.1_Nonsense_Mutation_p.W326*|APLP1_ENST00000537454.2_Nonsense_Mutation_p.W293*	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	332	Heparin-binding (By similarity).				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)			TGCGTGAATGGGCCATGGCAG	0.562000													14	36					0	0	0.004990	0	0
SYNPO2	171024	broad.mit.edu	37	4	119947923	119947923	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:119947923C>T	ENST00000307142.4	+	3	595	c.399C>T	c.(397-399)ctC>ctT	p.L133L	SYNPO2_ENST00000429713.2_Silent_p.L133L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.L133L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	133						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AATTCTTCCTCGCCCCTGTCA	0.522000													11	44					0	0	0.000978	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712077	222712077	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:222712077C>T	ENST00000343410.6	-	5	1548	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	497					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GACTGACTTCCCCACTGCATG	0.468000													39	174					0	0	0.007835	0	0
TAF6	6878	broad.mit.edu	37	7	99708829	99708829	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99708829T>C	ENST00000344095.4	-	10	1541	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	TAF6_ENST00000437822.2_Missense_Mutation_p.Q376R|TAF6_ENST00000452041.1_Missense_Mutation_p.Q339R|TAF6_ENST00000472509.1_Missense_Mutation_p.Q396R|TAF6_ENST00000453269.2_Missense_Mutation_p.Q339R|TAF6_ENST00000418432.2_Missense_Mutation_p.Q263R	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	339					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGCAGATCTGGGCCACCAG	0.542000													100	40					0	0	0.003610	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032955	82032955	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:82032955C>T	ENST00000328945.5	-	3	1070	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	315					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTGTAAACTTCAGTGCGAGTG	0.448000													19	16					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179647757	179647757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179647757G>A	ENST00000589042.1	-	18	3100	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F	TTN_ENST00000359218.5_Missense_Mutation_p.S913F|TTN_ENST00000342992.6_Missense_Mutation_p.S959F|TTN_ENST00000360870.5_Missense_Mutation_p.S959F|TTN_ENST00000460472.2_Missense_Mutation_p.S913F|TTN_ENST00000342175.6_Missense_Mutation_p.S913F|TTN_ENST00000591111.1_Missense_Mutation_p.S959F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	959	Ig-like 3.						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)			CAAGGTGACAGATTCACCTTC	0.403000													19	44					0	0	0.007413	0	0
MYO18B	84700	broad.mit.edu	37	22	26219623	26219623	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:26219623C>T	ENST00000335473.7	+	13	2923	c.2673C>T	c.(2671-2673)ctC>ctT	p.L891L	MYO18B_ENST00000407587.2_Silent_p.L891L|MYO18B_ENST00000536101.1_Silent_p.L891L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	891	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATGGGGCCTCGAGGATGAGG	0.592000													51	143					0	0	0.003610	0	0
CSRP2	1466	broad.mit.edu	37	12	77254062	77254062	+	Splice_Site	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:77254062A>T	ENST00000311083.5	-	4	535		c.e4+1		CSRP2_ENST00000552330.1_Splice_Site|CSRP2_ENST00000547435.1_Splice_Site|CSRP2_ENST00000546966.1_Splice_Site	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2						multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ATAGCACTTTACCTTTCCAGC	0.418000													18	22					0	0	0.006122	0	0
SMURF2	64750	broad.mit.edu	37	17	62568040	62568040	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:62568040G>A	ENST00000262435.9	-	10	1079	c.892C>T	c.(892-894)Cca>Tca	p.P298S	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	298	WW 3.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGAGGCAATGGACCAAGCTCT	0.418000													9	30					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113871469	113871469	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:113871469C>G	ENST00000297405.5	-	11	1904	c.1660G>C	c.(1660-1662)Gga>Cga	p.G554R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G450R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G554R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G514R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	554	CUB 3.					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						CCACTTGGTCCTTGAAGATTA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	39					0	0	0.003163	0	0
GPR174	84636	broad.mit.edu	37	X	78427282	78427282	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:78427282G>A	ENST00000276077.1	+	1	814	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	260						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GAAGTCCAATGAAATTAAAAG	0.388000										HNSCC(63;0.18)			28	19					0	0	0.008361	0	0
KPRP	448834	broad.mit.edu	37	1	152733502	152733502	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152733502C>T	ENST00000368773.1	+	2	1496	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	KPRP_ENST00000606109.1_Missense_Mutation_p.P480S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	480	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCCAATTCCCCTGCCGGC	0.657000													41	77					0	0	0.007835	0	0
MTCH2	23788	broad.mit.edu	37	11	47653242	47653242	+	Missense_Mutation	SNP	G	G	A	rs146228351	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47653242G>A	ENST00000302503.3	-	6	548	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	131					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGCAGAACGAGCGATCATC	0.423000													30	82					0	0	0.002836	0	0
UBBP4	23666	broad.mit.edu	37	17	21731137	21731137	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:21731137C>T	ENST00000584755.1	+	2	836	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.L147L																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GCATCTGGTCCTGCGTCTGAG	0.557000													9	38					0	0	0.000978	0	0
FAM115C	285966	broad.mit.edu	37	7	143421817	143421817	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:143421817G>A	ENST00000444908.2	+	7	2617	c.2532G>A	c.(2530-2532)agG>agA	p.R844R	FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000441159.2_Intron|FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000357344.4_Silent_p.R844R|FAM115C_ENST00000411497.2_Silent_p.R563R|FAM115C_ENST00000425618.2_Silent_p.R563R	NM_001130025.1	NP_001123497.1	A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	0										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CTGGGAGAAGGGGATGACCAG	0.577000													73	61					0	0	0.003610	0	0
SELP	6403	broad.mit.edu	37	1	169565373	169565373	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:169565373C>T	ENST00000263686.6	-	12	1929		c.e12-1		SELP_ENST00000458599.2_Splice_Site|SELP_ENST00000367786.2_Splice_Site|SELP_ENST00000367793.2_Splice_Site|SELP_ENST00000367788.2_Splice_Site|SELP_ENST00000367792.2_Splice_Site|SELP_ENST00000367794.2_Splice_Site|SELP_ENST00000367791.2_Splice_Site	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)						platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GATGCTATGCCTGTTGTGAGA	0.463000													49	64					0	0	0.003610	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	rs140203672	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000													10	53					0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238303450	238303450	+	Silent	SNP	C	C	T	rs148970984	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238303450C>T	ENST00000295550.4	-	3	941	c.489G>A	c.(487-489)gcG>gcA	p.A163A	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Silent_p.A163A|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Silent_p.A163A|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	163	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTTAAGTTCCGCTGAGGGCA	0.498000													24	42					0	0	0.002299	0	0
SLC6A2	6530	broad.mit.edu	37	16	55706064	55706064	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:55706064C>T	ENST00000379906.2	+	3	876	c.621C>T	c.(619-621)ttC>ttT	p.F207F	SLC6A2_ENST00000567238.1_Silent_p.F102F|SLC6A2_ENST00000568943.1_Silent_p.F207F|SLC6A2_ENST00000219833.8_Silent_p.F207F|SLC6A2_ENST00000566163.1_Silent_p.F207F|SLC6A2_ENST00000561820.1_Silent_p.F207F|SLC6A2_ENST00000414754.3_Silent_p.F207F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	207					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTACAAGTTCACGCCGGCAG	0.557000													15	22					0	0	0.004990	0	0
RGS5	8490	broad.mit.edu	37	1	163122481	163122481	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:163122481G>A	ENST00000313961.5	-	4	520	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RGS5_ENST00000367903.3_Silent_p.F101F|RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Silent_p.F81F	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	81	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGACTTCAGGAAACTTTTGA	0.398000													35	55					0	0	0.003755	0	0
NRP2	8828	broad.mit.edu	37	2	206562290	206562290	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:206562290G>A	ENST00000360409.3	+	2	887	c.96G>A	c.(94-96)ttG>ttA	p.L32L	NRP2_ENST00000357118.4_Silent_p.L32L|NRP2_ENST00000540178.1_Silent_p.L32L|NRP2_ENST00000540841.1_Silent_p.L32L|NRP2_ENST00000272849.3_Silent_p.L32L|NRP2_ENST00000357785.5_Silent_p.L32L|NRP2_ENST00000417189.1_Silent_p.L32L|NRP2_ENST00000355117.4_Silent_p.L32L|NRP2_ENST00000412873.2_Silent_p.L32L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	32	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGGTCGTTTGAATTCCAAAG	0.517000													113	231					0	0	0.003610	0	0
DISP1	84976	broad.mit.edu	37	1	223178316	223178316	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:223178316G>A	ENST00000284476.6	+	8	3741	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1193					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAGTTTTATGAATTAGAACC	0.443000													142	283					0	0	0.003610	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744059	70744059	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:70744059G>A	ENST00000260126.3	-	2	1556	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	SLCO5A1_ENST00000524945.1_Silent_p.L284L|SLCO5A1_ENST00000530307.1_Silent_p.L284L|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	284						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTTGGTCCCAGGGTATAAATA	0.448000													21	54					0	0	0.008871	0	0
NELL1	4745	broad.mit.edu	37	11	20939733	20939733	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:20939733C>T	ENST00000298925.5	+	7	846	c.693C>T	c.(691-693)atC>atT	p.I231I	NELL1_ENST00000357134.5_Silent_p.I203I|NELL1_ENST00000325319.5_Silent_p.I146I|NELL1_ENST00000532434.1_Silent_p.I203I			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	203					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						TCAAGGGGATCATCCAAGATG	0.378000													38	86					0	0	0.008740	0	0
TAAR8	83551	broad.mit.edu	37	6	132873961	132873961	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:132873961C>T	ENST00000275200.1	+	1	130	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	44						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGGTCTTTGCTGGCTGTATT	0.448000													53	119					0	0	0.003610	0	0
APPL1	26060	broad.mit.edu	37	3	57271521	57271521	+	Splice_Site	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:57271521A>T	ENST00000288266.3	+	3	302	c.153_splice	c.e3-1	p.N52_splice		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	52	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTTCCATAGAATGAATTAAGT	0.229000													6	18					0	0	0.001984	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000140	46000140	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:46000140C>T	ENST00000400372.1	-	1	341	c.316G>A	c.(316-318)Gat>Aat	p.D106N	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	106	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAAGAGGAATCCTTAGAgcag	0.647000													29	63					0	0	0.005443	0	0
STAG3	10734	broad.mit.edu	37	7	99798111	99798111	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99798111C>T	ENST00000426455.1	+	18	2213	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Silent_p.L544L|STAG3_ENST00000317296.5_Silent_p.L602L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	602					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCTGCTCCAGCTTCTCA	0.542000													45	20					0	0	0.003610	0	0
PAH	5053	broad.mit.edu	37	12	103234185	103234185	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:103234185G>A	ENST00000553106.1	-	12	1780	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	PAH_ENST00000307000.2_Silent_p.S431S	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	436					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TACTGTTAATGGAATCAGCCA	0.433000													17	25					0	0	0.006122	0	0
NOS3	4846	broad.mit.edu	37	7	150690932	150690932	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:150690932C>T	ENST00000297494.3	+	2	398	c.41C>T	c.(40-42)cCc>cTc	p.P14L	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Missense_Mutation_p.P14L|NOS3_ENST00000484524.1_Missense_Mutation_p.P14L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	14					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGGGCCACCCTGCGGCCTG	0.692000													28	10					0	0	0.002836	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858759	38858759	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38858759A>T	ENST00000409235.3	+	26	3117	c.3002A>T	c.(3001-3003)cAc>cTc	p.H1001L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.H961L|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1001					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATCATGTCCCACGAGAGCCCA	0.602000													25	76					0	0	0.005443	0	0
WARS	7453	broad.mit.edu	37	14	100820807	100820807	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:100820807G>A	ENST00000355338.2	-	5	1137	c.519C>T	c.(517-519)caC>caT	p.H173H	WARS_ENST00000557135.1_Silent_p.H173H|WARS_ENST00000344102.5_Silent_p.H132H|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Silent_p.H132H|WARS_ENST00000358655.4_Silent_p.H132H|WARS_ENST00000392882.2_Silent_p.H173H	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	173					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	ATGGAATGAGGTGACCTACAT	0.378000													27	41					0	0	0.007291	0	0
C1orf177	163747	broad.mit.edu	37	1	55282696	55282696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:55282696G>A	ENST00000358193.3	+	9	1139	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	C1orf177_ENST00000371273.3_Nonsense_Mutation_p.W362*	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	362										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTCAACACCTGGCTGATGGAG	0.577000													13	38					0	0	0.004007	0	0
NUP210L	91181	broad.mit.edu	37	1	153974357	153974357	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153974357C>T	ENST00000368559.3	-	36	5106	c.5035G>A	c.(5035-5037)Gaa>Aaa	p.E1679K	NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1679						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGCTACGTTCACTGACCAGT	0.473000													31	51					0	0	0.008361	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481762	27481762	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27481762T>C	ENST00000233535.4	-	2	488	c.136A>G	c.(136-138)Aaa>Gaa	p.K46E	SLC30A3_ENST00000447008.2_Missense_Mutation_p.K41E	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	46					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCACAGGTTTGGACTCCTCA	0.637000													17	30					0	0	0.006122	0	0
CFB	629	broad.mit.edu	37	6	31911491	31911491	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31911491C>T	ENST00000556679.1	+	10	1234	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	C2_ENST00000299367.5_Silent_p.V546V|CFB_ENST00000477310.1_Silent_p.V317V|CFB_ENST00000456570.1_Silent_p.V393V|C2_ENST00000469372.1_Silent_p.V300V|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Silent_p.V414V|C2_ENST00000452323.2_Silent_p.V332V			P00751	CFAB_HUMAN	complement factor B	561	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGTTTGATGTCTTTGCCAAAA	0.493000													149	309					0	0	0.003610	0	0
S100A9	6280	broad.mit.edu	37	1	153333238	153333238	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153333238C>T	ENST00000368738.3	+	3	312	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	90					cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGGGCCTCCCACGAGAAG	0.582000													13	22					0	0	0.001855	0	0
C6orf118	168090	broad.mit.edu	37	6	165715547	165715547	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:165715547C>T	ENST00000230301.8	-	2	284	c.264G>A	c.(262-264)ggG>ggA	p.G88G	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	88										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGGCGCGCTCCCCCTTGGGCC	0.647000													33	45					0	0	0.003271	0	0
COL4A1	1282	broad.mit.edu	37	13	110838746	110838746	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:110838746G>A	ENST00000375820.4	-	26	2004	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	628	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGCCTGGGGATCCAGGGCC	0.622000													66	115					0	0	0.003610	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900427	151900427	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:151900427C>T	ENST00000393900.3	-	3	727	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	MAGEA12_ENST00000393869.3_Missense_Mutation_p.R125Q|MAGEA12_ENST00000357916.4_Missense_Mutation_p.R125Q|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	125	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGGCTCGATACTTGAG	0.502000													39	21					0	0	0.009718	0	0
OR10A4	283297	broad.mit.edu	37	11	6898760	6898760	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6898760G>A	ENST00000379829.2	+	1	905	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCTCAAGGAATAAAGAAG	0.493000													32	77					0	0	0.003755	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:2582822C>T	ENST00000358864.1	+	11	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	430						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000													7	33					0	0	0.001984	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:50936947C>T	ENST00000442544.2	+	20	3677	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R656*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R849*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000													25	43					0	0	0.003330	0	0
USP37	57695	broad.mit.edu	37	2	219341665	219341665	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:219341665G>A	ENST00000258399.3	-	19	2353	c.1941C>T	c.(1939-1941)tgC>tgT	p.C647C	USP37_ENST00000454775.1_Silent_p.C647C|USP37_ENST00000475553.1_Intron|USP37_ENST00000418019.1_Silent_p.C647C|USP37_ENST00000415516.1_Silent_p.C553C	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	647					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTGAATCAAGGCATAAAGCCA	0.393000													15	36					0	0	0.004007	0	0
MACC1	346389	broad.mit.edu	37	7	20197884	20197884	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:20197884T>G	ENST00000400331.5	-	5	2408	c.2100A>C	c.(2098-2100)ttA>ttC	p.L700F	MACC1_ENST00000332878.4_Missense_Mutation_p.L700F|MACC1_ENST00000589011.1_Missense_Mutation_p.L700F	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	700					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AATCTTCCTTTAACTTCTTTA	0.363000													22	42					0	0	0.010504	0	0
PENK	5179	broad.mit.edu	37	8	57354068	57354068	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:57354068G>A	ENST00000314922.3	-	2	643	c.567C>T	c.(565-567)ttC>ttT	p.F189F	PENK_ENST00000451791.2_Silent_p.F189F|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	189					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGCCTCTCATGAAGCCCCCAT	0.517000													70	122					0	0	0.003610	0	0
OR2L3	391192	broad.mit.edu	37	1	248224630	248224630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248224630C>T	ENST00000359959.3	+	1	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTTCATGTTCCTATGGCCGG	0.502000													35	67					0	0	0.004878	0	0
PLEC	5339	broad.mit.edu	37	8	144994643	144994643	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144994643G>A	ENST00000322810.4	-	32	9926	c.9757C>T	c.(9757-9759)Ctg>Ttg	p.L3253L	PLEC_ENST00000345136.3_Silent_p.L3116L|PLEC_ENST00000356346.3_Silent_p.L3102L|PLEC_ENST00000527096.1_Silent_p.L3139L|PLEC_ENST00000436759.2_Silent_p.L3143L|PLEC_ENST00000357649.2_Silent_p.L3120L|PLEC_ENST00000398774.2_Silent_p.L3084L|PLEC_ENST00000354958.2_Silent_p.L3094L|PLEC_ENST00000354589.3_Silent_p.L3116L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3253	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGAACAGGGAGACGCTC	0.657000													14	22					0	0	0.004007	0	0
OR4A5	81318	broad.mit.edu	37	11	51411590	51411590	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:51411590G>A	ENST00000319760.6	-	1	858	c.806C>T	c.(805-807)aCt>aTt	p.T269I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAAAACACAGTCATGAACTT	0.363000													9	23					0	0	0.008291	0	0
PLG	5340	broad.mit.edu	37	6	161152223	161152223	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:161152223C>T	ENST00000308192.9	+	11	1460	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	466		Cleavage; by stromelysin-19.			extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCACCTCCGCCTGTTGTCCTG	0.512000													22	45					0	0	0.002299	0	0
MRPL46	26589	broad.mit.edu	37	15	89008035	89008035	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:89008035T>C	ENST00000312475.4	-	3	529	c.488A>G	c.(487-489)gAg>gGg	p.E163G	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	163						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCCAAACTTCTCTCTGACTAA	0.527000													22	194					0	0	0.002299	0	0
KANK4	163782	broad.mit.edu	37	1	62740610	62740610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62740610G>A	ENST00000371153.4	-	3	544	c.166C>T	c.(166-168)Cct>Tct	p.P56S	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	56										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGTGGATAGGAATTCTTTTG	0.532000													55	132					0	0	0.003610	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37581438	37581438	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:37581438G>A	ENST00000337843.2	-	2	184	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.L37L	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	18						collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCACACATCAGGAGAAAGAGC	0.597000													9	48					0	0	0.008291	0	0
FAM181A	90050	broad.mit.edu	37	14	94395482	94395482	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94395482C>T	ENST00000267594.5	+	3	1344	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	FAM181A_ENST00000557719.1_Missense_Mutation_p.P284L|FAM181A_ENST00000557000.2_Missense_Mutation_p.P284L|FAM181A_ENST00000556222.1_Missense_Mutation_p.P284L	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	346										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GTGCCCCCACCCATCTTCAAT	0.662000													17	46					0	0	0.004990	0	0
ELF5	2001	broad.mit.edu	37	11	34502374	34502374	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:34502374C>T	ENST00000312319.2	-	6	875	c.646G>A	c.(646-648)Gga>Aga	p.G216R	ELF5_ENST00000429939.2_Missense_Mutation_p.G111R|ELF5_ENST00000257832.2_Missense_Mutation_p.G206R	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	216					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTCCTTTGTCCCCACATCTTT	0.408000													14	51					0	0	0.004007	0	0
AQP10	89872	broad.mit.edu	37	1	154295498	154295498	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:154295498C>T	ENST00000484864.1	+	3	309	c.273C>T	c.(271-273)atC>atT	p.I91I	AQP10_ENST00000324978.3_Silent_p.I91I|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	91					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATGTGCATCGTTGGACGCC	0.522000													16	80					0	0	0.006122	0	0
CABIN1	23523	broad.mit.edu	37	22	24560498	24560498	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:24560498C>T	ENST00000398319.2	+	30	5262	c.4877C>T	c.(4876-4878)tCc>tTc	p.S1626F	CABIN1_ENST00000405822.2_Missense_Mutation_p.S1547F|CABIN1_ENST00000337989.7_Missense_Mutation_p.S51F|CABIN1_ENST00000263119.5_Missense_Mutation_p.S1626F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1626					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGTGTCCTCCATGCTT	0.652000													24	26					0	0	0.003330	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456921	25456921	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:25456921G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGTATGTGTGGGCAGGGGGGG	0.552000													22	81					0	0	0.002299	0	0
DNAH7	56171	broad.mit.edu	37	2	196738347	196738347	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196738347C>T	ENST00000312428.6	-	39	6458	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2120	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTATCACTAAACTCA	0.274000													18	48					0	0	0.007413	0	0
KALRN	8997	broad.mit.edu	37	3	124053225	124053225	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:124053225G>A	ENST00000360013.3	+	9	1651	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	KALRN_ENST00000240874.3_Silent_p.L508L|KALRN_ENST00000460856.1_Silent_p.L508L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	508					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						ACCAGGTGCTGGACGTGGTGC	0.627000													50	71					0	0	0.003610	0	0
HTR1F	3355	broad.mit.edu	37	3	88040349	88040349	+	Silent	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:88040349A>T	ENST00000319595.4	+	1	504	c.450A>T	c.(448-450)atA>atT	p.I150I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	150					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTTGGATTATATCTGTTTTTA	0.418000													10	26					0	0	0.008291	0	0
SDC1	6382	broad.mit.edu	37	2	20403772	20403772	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:20403772G>A	ENST00000381150.1	-	4	819	c.429C>T	c.(427-429)acC>acT	p.T143T	SDC1_ENST00000254351.4_Silent_p.T143T|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.T143T	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	143					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCTGGGCCGTGGTGGCTGTGG	0.687000													30	84					0	0	0.003271	0	0
NEB	4703	broad.mit.edu	37	2	152404006	152404006	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152404006C>T	ENST00000427231.2	-	133	20506	c.20304G>A	c.(20302-20304)atG>atA	p.M6768I	NEB_ENST00000603639.1_Missense_Mutation_p.M6768I|NEB_ENST00000604864.1_Missense_Mutation_p.M6768I|NEB_ENST00000172853.10_Missense_Mutation_p.M5067I|NEB_ENST00000397345.3_Missense_Mutation_p.M6768I|NEB_ENST00000409198.1_Missense_Mutation_p.M5067I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5067					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAGAGAGATCATGTGGCCCT	0.413000													4	13					0	0	0.009096	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677177	233677177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:233677177C>T	ENST00000373566.3	+	19	2346	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q717*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q695*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q689*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q716*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q526*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q695*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	695	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGGGAGCTTCAGCCAACAGC	0.378000													10	31					0	0	0.001855	0	0
WDR36	134430	broad.mit.edu	37	5	110439611	110439611	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:110439611C>T	ENST00000506538.2	+	7	1465	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	WDR36_ENST00000505303.1_Missense_Mutation_p.R242C|WDR36_ENST00000513710.2_Missense_Mutation_p.R298C	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	298					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATTTCATTTCGCACAGGTAA	0.299000													15	52					0	0	0.004990	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796941	69796941	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69796941C>T	ENST00000251566.4	-	4	1046	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G50E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	339						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGTTTTTTTCCTTTGTACCT	0.358000													8	26					0	0	0.006214	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867572	150867572	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:150867572G>A	ENST00000243389.3	+	11	1411	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	SLC36A1_ENST00000520701.1_Silent_p.L396L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	396					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCCCCCGCCTGGACCTGGTCA	0.612000													23	40					0	0	0.003954	0	0
GPR98	84059	broad.mit.edu	37	5	89924421	89924421	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:89924421G>A	ENST00000405460.2	+	8	1377	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	427					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)		GAACCCATGGGAATGTCTCTG	0.403000													21	44					0	0	0.001882	0	0
TTC21B	79809	broad.mit.edu	37	2	166786230	166786230	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166786230C>T	ENST00000243344.7	-	10	1252	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	372						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTGTAATTGCCCTTCTATCAA	0.373000													8	39					0	0	0.008291	0	0
DMXL2	23312	broad.mit.edu	37	15	51795182	51795182	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:51795182C>A	ENST00000251076.5	-	17	3100	c.2813G>T	c.(2812-2814)gGa>gTa	p.G938V	DMXL2_ENST00000543779.2_Missense_Mutation_p.G938V|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	938						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTCTTCTGTCCAGGGACTGA	0.363000													10	63					6.40141e-05	7.36174e-05	0.000978	1	0
ATP2A2	488	broad.mit.edu	37	12	110781220	110781220	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:110781220C>T	ENST00000395494.2	+	15	2984	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	ATP2A2_ENST00000308664.6_Silent_p.F834F|ATP2A2_ENST00000539276.2_Silent_p.F834F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	834	Interacts with phospholamban 2 (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GGCTCTTTTTCCGTTACTTGG	0.413000													30	35					0	0	0.009535	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852081	125852081	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125852081C>T	ENST00000373647.4	+	20	2603	c.2469C>T	c.(2467-2469)acC>acT	p.T823T	RABGAP1_ENST00000373643.5_Silent_p.T162T	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	823					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATATCACACCATGAGGGAAC	0.413000													3	3					0	0	0.000602	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652466	75652466	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:75652466G>T	ENST00000565683.1	-	14	1682	c.1671C>A	c.(1669-1671)ttC>ttA	p.F557L	MAN2C1_ENST00000569482.1_Missense_Mutation_p.F557L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.F458L|MAN2C1_ENST00000267978.5_Missense_Mutation_p.F557L	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	557					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGGGTATAGGAACTGGGCAC	0.627000													41	213					2.77807e-22	3.22356e-22	0.003214	1	0
SPOCD1	90853	broad.mit.edu	37	1	32264057	32264057	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:32264057C>T	ENST00000360482.2	-	8	2143	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.D672N|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.D165N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	672	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTGGGGTCCCGCAGGTTG	0.622000													25	39					0	0	0.005443	0	0
OR2T34	127068	broad.mit.edu	37	1	248737121	248737121	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248737121C>T	ENST00000328782.2	-	1	959	c.938G>A	c.(937-939)aGa>aAa	p.R313K		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TTGGTTCATTCTTGACTGCAT	0.478000													17	31					0	0	0.007413	0	0
HRH1	3269	broad.mit.edu	37	3	11301359	11301359	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:11301359G>A	ENST00000397056.1	+	3	827	c.636G>A	c.(634-636)aaG>aaA	p.K212K	HRH1_ENST00000438284.2_Silent_p.K212K|HRH1_ENST00000431010.2_Silent_p.K212K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512000													49	98					0	0	0.003610	0	0
MYBPC2	4606	broad.mit.edu	37	19	50967675	50967675	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50967675G>A	ENST00000357701.5	+	27	3352	c.3301G>A	c.(3301-3303)Gga>Aga	p.G1101R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1101	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAATTACCAAGGAGTCCTGAC	0.577000													3	16					0	0	0.009096	0	0
OR2W3	343171	broad.mit.edu	37	1	248058951	248058951	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248058951C>T	ENST00000537741.1	+	3	320	c.63C>T	c.(61-63)ccC>ccT	p.P21P	OR2W3_ENST00000360358.3_Silent_p.P21P			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21P(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			CTGACCGACCCCATCTGGAGA	0.527000													7	48					0	0	0.003080	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691147	18691147	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18691147G>A	ENST00000433979.1	+	24	3374	c.3258G>A	c.(3256-3258)ggG>ggA	p.G1086G	PIK3C2G_ENST00000538779.1_Silent_p.G1127G|PIK3C2G_ENST00000266497.5_Silent_p.G1086G	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGAGGGTGGGAAAAACCCAC	0.398000													22	57					0	0	0.002299	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131232	151131232	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151131232A>C	ENST00000368910.3	+	2	185	c.59A>C	c.(58-60)aAg>aCg	p.K20T		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	20					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACTGAGTAAGATGGCGGGT	0.532000													14	31					0	0	0.003163	0	0
SORCS3	22986	broad.mit.edu	37	10	107022146	107022146	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:107022146G>A	ENST00000369701.3	+	26	3728	c.3501G>A	c.(3499-3501)atG>atA	p.M1167I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1167						integral to membrane	neuropeptide receptor activity	p.M1167I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCAGGAGATGATTGGGTCAG	0.498000													14	22					0	0	0.002450	0	0
LILRB4	11006	broad.mit.edu	37	19	55178186	55178186	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55178186G>A	ENST00000391736.1	+	12	1342	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	LILRB4_ENST00000430952.2_Missense_Mutation_p.E343K|LILRB4_ENST00000391734.3_Missense_Mutation_p.E343K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E344K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E343K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	343						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGACGGGGTGGAAATGGACAC	0.617000													18	53					0	0	0.002299	0	0
SOGA2	23255	broad.mit.edu	37	18	8824715	8824715	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:8824715C>T	ENST00000359865.3	+	15	3349	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S	SOGA2_ENST00000400050.3_Silent_p.S1028S|SOGA2_ENST00000517570.1_Silent_p.S1028S|SOGA2_ENST00000306329.11_Silent_p.S1388S|SOGA2_ENST00000306285.7_Silent_p.S394S|SOGA2_ENST00000518815.1_Silent_p.S394S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1379																	CCGTGTCCTCCATGTCTGAGT	0.597000													11	10					0	0	0.000978	0	0
WDR96	80217	broad.mit.edu	37	10	105920862	105920862	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105920862C>T	ENST00000357060.3	-	27	3588	c.3473G>A	c.(3472-3474)aGa>aAa	p.R1158K	WDR96_ENST00000428666.1_Missense_Mutation_p.R1159K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1158										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAATTGTTTTCTTTCTTCTTC	0.328000													17	12					0	0	0.004990	0	0
SCEL	8796	broad.mit.edu	37	13	78178501	78178501	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:78178501C>T	ENST00000377246.3	+	18	1133	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	SCEL_ENST00000535157.1_Intron|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000349847.3_Missense_Mutation_p.L370F	NM_003843.3	NP_003834.3	O95171	SCEL_HUMAN	sciellin	370	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAAAAAGACCTTGATGGGCT	0.323000													31	73					0	0	0.002096	0	0
CDCP1	64866	broad.mit.edu	37	3	45127251	45127251	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:45127251G>A	ENST00000296129.1	-	9	2524	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	797						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCAGGAGGGGAGCGAGGAGG	0.587000													28	52					0	0	0.007291	0	0
FRMD5	84978	broad.mit.edu	37	15	44181070	44181070	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:44181070C>T	ENST00000417257.1	-	9	905	c.728_splice	c.e9-1	p.W243_splice	FRMD5_ENST00000484674.1_Splice_Site_p.W154_splice|FRMD5_ENST00000402883.1_Splice_Site_p.W243_splice	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	243	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCACCTCATTCCTAGAAGCAC	0.483000													17	22					0	0	0.006122	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247329	142247329	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142247329C>T	ENST00000390361.3	-	0	176																											GAAATTGGATCACACCTGAGC	0.517000													7	94					0	0	0.004007	0	0
IYD	389434	broad.mit.edu	37	6	150719329	150719329	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:150719329G>A	ENST00000344419.3	+	5	966	c.826G>A	c.(826-828)Gac>Aac	p.D276N	IYD_ENST00000229447.5_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	276					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CACGGTGCCTGACCTCAAGCG	0.652000													30	53					0	0	0.002445	0	0
POLR2F	5435	broad.mit.edu	37	22	38355370	38355370	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38355370C>T	ENST00000488684.1	+	3	256	c.167C>T	c.(166-168)tCg>tTg	p.S56L	POLR2F_ENST00000442738.2_Silent_p.V36V|POLR2F_ENST00000606538.1_Silent_p.V36V|POLR2F_ENST00000407936.1_Silent_p.V36V|POLR2F_ENST00000405557.1_Silent_p.V36V|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000470701.1_Silent_p.V31V|POLR2F_ENST00000460648.1_Intron			P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	61					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					AGGAGAATGTCGAGATCCTCC	0.547000													92	169					0	0	0.003610	0	0
ME2	4200	broad.mit.edu	37	18	48434450	48434450	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:48434450A>G	ENST00000321341.5	+	3	398	c.126A>G	c.(124-126)ttA>ttG	p.L42L	ME2_ENST00000382927.3_Silent_p.L42L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	42					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CATTTACTTTACAAGAACGAC	0.323000													7	43					0	0	0.003080	0	0
CUX1	1523	broad.mit.edu	37	7	101844696	101844696	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:101844696C>T	ENST00000360264.3	+	18	2172	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R685C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R605C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R549C|CUX1_ENST00000292535.7_Missense_Mutation_p.R707C|CUX1_ENST00000550008.2_Missense_Mutation_p.R651C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	707					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						TGACGCCATCCGCTCCATCCT	0.657000													111	33					0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99551530	99551530	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:99551530A>G	ENST00000373034.4	-	6	4867	c.3192T>C	c.(3190-3192)ccT>ccC	p.P1064P	PCDH19_ENST00000420881.2_Silent_p.P1016P|PCDH19_ENST00000255531.7_Silent_p.P1017P	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1064					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGAGGTGACAGGGCTAATCG	0.597000													11	7					0	0	0.008291	0	0
STARD6	147323	broad.mit.edu	37	18	51858177	51858177	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:51858177G>A	ENST00000581310.1	-	7	693	c.320C>T	c.(319-321)tCc>tTc	p.S107F	STARD6_ENST00000307844.3_Missense_Mutation_p.S107F|STARD6_ENST00000580990.2_Silent_p.F14F			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	107	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GTCTCGAGGGGAAATGGAGCC	0.363000													13	31					0	0	0.003163	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716748	39716748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:39716748G>A	ENST00000553728.1	+	4	1183	c.970G>A	c.(970-972)Gat>Aat	p.D324N	MIA2_ENST00000556784.1_Missense_Mutation_p.D323N|MIA2_ENST00000280082.3_Missense_Mutation_p.D324N																							TGGAGATGAGGATACAGGGCT	0.408000													15	47					0	0	0.004990	0	0
ASNS	440	broad.mit.edu	37	7	97482446	97482446	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:97482446C>T	ENST00000175506.4	-	13	1930	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ASNS_ENST00000394308.3_Missense_Mutation_p.E468K|ASNS_ENST00000444334.1_Missense_Mutation_p.E447K|ASNS_ENST00000422745.1_Missense_Mutation_p.E447K|ASNS_ENST00000437628.1_Missense_Mutation_p.E385K|ASNS_ENST00000455086.1_Missense_Mutation_p.E385K|ASNS_ENST00000394309.3_Missense_Mutation_p.E468K	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	468	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAAGGCTTCTTTTGGTCGC	0.368000													36	40					0	0	0.002836	0	0
FCRL5	83416	broad.mit.edu	37	1	157490868	157490868	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:157490868G>A	ENST00000361835.3	-	11	2611	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S818S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	818	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGGCCTCACAGGAGTAGTTTC	0.542000													15	70					0	0	0.004007	0	0
PSG7	5676	broad.mit.edu	37	19	43430737	43430737	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43430737G>A	ENST00000446844.3	-	0	930				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGACTGACCGGGAGGCTCTGA	0.468000													118	272					0	0	0.003610	0	0
DTX3L	151636	broad.mit.edu	37	3	122290533	122290533	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122290533A>C	ENST00000296161.4	+	5	2351	c.2162A>C	c.(2161-2163)tAt>tCt	p.Y721S	DTX3L_ENST00000383661.3_Missense_Mutation_p.Y209S	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	721					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGGTATGGCTATCCTGATCCT	0.363000													5	28					0	0	0.000602	0	0
KRT16	3868	broad.mit.edu	37	17	39767899	39767899	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39767899G>A	ENST00000301653.4	-	2	670	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	202	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ACTTGGTCCTGAAGTCATCGG	0.622000													6	17					0	0	0.001984	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658649	167658649	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:167658649C>T	ENST00000357154.3	-	11	1247	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	SPOCK3_ENST00000511531.1_Missense_Mutation_p.M370I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.M370I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.M367I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.M250I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.M367I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.M238I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.M274I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.M327I|SPOCK3_ENST00000421836.2_Missense_Mutation_p.M319I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.M367I|SPOCK3_ENST00000541637.1_Missense_Mutation_p.M272I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.M272I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.M370I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	370	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCTGGATCCCATGACTTCAT	0.403000													26	84					0	0	0.008361	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183094	140183094	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140183094C>T	ENST00000522353.2	+	1	2312	c.2312C>T	c.(2311-2313)gCt>gTt	p.A771V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A771V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCATGGCTTTTAGCCCT	0.542000													34	60					0	0	0.003755	0	0
AMER2	219287	broad.mit.edu	37	13	25744419	25744419	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:25744419C>T	ENST00000357816.2	-	3	1457	c.982G>A	c.(982-984)Gag>Aag	p.E328K	AMER2_ENST00000515384.1_Missense_Mutation_p.E447K|AMER2_ENST00000381853.3_Missense_Mutation_p.E328K					APC membrane recruitment protein 2																		CCCTGCTCCTCGGTCTGGGAG	0.657000													10	14					0	0	0.006214	0	0
CCDC147	159686	broad.mit.edu	37	10	106130806	106130806	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:106130806G>A	ENST00000369704.3	+	7	1218	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	362										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGTGGGATTAGAGAGAGGTAA	0.373000													7	10					0	0	0.003080	0	0
DMPK	1760	broad.mit.edu	37	19	46282606	46282606	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46282606G>A	ENST00000600757.1	-	3	1065	c.378C>T	c.(376-378)ttC>ttT	p.F126F	DMPK_ENST00000343373.4_Silent_p.F126F|DMPK_ENST00000354227.5_Silent_p.F116F|DMPK_ENST00000291270.4_Silent_p.F116F|DMPK_ENST00000447742.2_Silent_p.F116F|DMPK_ENST00000458663.2_Silent_p.F116F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	126	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTCCTCACGGAAGCACGACA	0.687000													42	66					0	0	0.002522	0	0
KALRN	8997	broad.mit.edu	37	3	124281768	124281768	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:124281768G>A	ENST00000360013.3	+	34	5135	c.5008G>A	c.(5008-5010)Ggg>Agg	p.G1670R	KALRN_ENST00000393496.1_Missense_Mutation_p.G43R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1670	SH3 1.				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						CATCCAGGTGGGGCAGACGGT	0.657000													11	18					0	0	0.000978	0	0
UBR5	51366	broad.mit.edu	37	8	103372302	103372302	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:103372302A>G	ENST00000520539.1	-	5	989	c.383T>C	c.(382-384)tTa>tCa	p.L128S	UBR5_ENST00000521922.1_Missense_Mutation_p.L128S|UBR5_ENST00000220959.4_Missense_Mutation_p.L128S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	128					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)			AACTTACCCTAAGGTGTTGCC	0.507000													14	39					0	0	0.002450	0	0
CEP68	23177	broad.mit.edu	37	2	65296886	65296886	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:65296886C>T	ENST00000377990.2	+	2	511	c.308C>T	c.(307-309)cCt>cTt	p.P103L	CEP68_ENST00000546106.1_Missense_Mutation_p.P103L|CEP68_ENST00000260569.4_Missense_Mutation_p.P103L|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	103					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGGCCTGCCTCCTGCCACC	0.607000													39	69					0	0	0.004878	0	0
FAM184A	79632	broad.mit.edu	37	6	119341252	119341252	+	Missense_Mutation	SNP	G	G	A	rs141308759		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:119341252G>A	ENST00000338891.7	-	4	1666	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	FAM184A_ENST00000521531.1_Missense_Mutation_p.S408L|FAM184A_ENST00000522284.1_Missense_Mutation_p.S288L|FAM184A_ENST00000368475.4_Missense_Mutation_p.S288L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.S288L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	408								p.S408L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTGACTCTCGATTTTTCTGA	0.373000													22	39					0	0	0.002299	0	0
ELFN2	114794	broad.mit.edu	37	22	37770941	37770941	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:37770941G>A	ENST00000402918.1	-	3	1419	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.R212C	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	212	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CACTGCAGGCGGTCGTAGTTC	0.637000													8	25					0	0	0.003080	0	0
ANO3	63982	broad.mit.edu	37	11	26655777	26655777	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:26655777G>A	ENST00000256737.3	+	19	2752	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ANO3_ENST00000525139.1_Missense_Mutation_p.E618K|ANO3_ENST00000531568.1_Missense_Mutation_p.E488K|ANO3_ENST00000537978.1_Missense_Mutation_p.E618K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	634						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						ATCAGAGTGGGAAAACAGCTT	0.413000													6	33					0	0	0.003080	0	0
PPM1M	132160	broad.mit.edu	37	3	52283764	52283764	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52283764C>T	ENST00000323588.4	+	10	1196	c.831C>T	c.(829-831)tcC>tcT	p.S277S	PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000457351.2_Silent_p.S438S|PPM1M_ENST00000409502.3_Silent_p.S226S			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GGCAGGTGTCCTACGATGACG	0.522000													15	17					0	0	0.004007	0	0
SIM2	6493	broad.mit.edu	37	21	38095401	38095401	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:38095401G>A	ENST00000290399.6	+	5	1126	c.513G>A	c.(511-513)agG>agA	p.R171R	SIM2_ENST00000430056.3_Silent_p.R171R	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	171					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGGCGAAAAGGAACGCGGGCC	0.542000													38	90					0	0	0.007835	0	0
TCP11	6954	broad.mit.edu	37	6	35089948	35089948	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:35089948C>T	ENST00000311875.5	-	5	980	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	TCP11_ENST00000512012.1_Missense_Mutation_p.R175Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R113Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R183Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R112Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R137Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R142Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R113Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	175					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TGCTTCATCTCGAACTGGTGC	0.478000													20	72					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9070704	9070704	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9070704G>A	ENST00000397910.4	-	3	16945	c.16742C>T	c.(16741-16743)cCc>cTc	p.P5581L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5583	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						TGTGTCCCAGGGAAGGATACC	0.517000													54	139					0	0	0.003610	0	0
RASL10A	10633	broad.mit.edu	37	22	29709932	29709932	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:29709932G>A	ENST00000401450.3	-	2	709	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RASL10A_ENST00000216101.6_Silent_p.A88A|RASL10A_ENST00000474590.1_5'UTR			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	88	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						CGAGCACGAAGGCGTCCGTGT	0.637000													22	35					0	0	0.001882	0	0
RYR2	6262	broad.mit.edu	37	1	237947694	237947694	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237947694G>A	ENST00000366574.2	+	90	12999	c.12682G>A	c.(12682-12684)Gag>Aag	p.E4228K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4212K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4234K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4228					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)			GAGGCCGGAAGAGCAGGGGCC	0.542000													6	20					0	0	0.001168	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125674	25125674	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:25125674C>T	ENST00000382103.2	-	11	1457	c.1385G>A	c.(1384-1386)aGa>aAa	p.R462K	SEPSECS_ENST00000302922.3_Missense_Mutation_p.R383K	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	462					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TCGTTCTTTTCTTACTGCCTT	0.383000													13	49					0	0	0.002450	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838893	34838893	+	Missense_Mutation	SNP	C	C	T	rs138673599		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:34838893C>T	ENST00000299505.6	+	11	3506	c.2633C>T	c.(2632-2634)cCg>cTg	p.P878L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	878										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCAACTGGCCGCCTATGGAT	0.637000													16	29					0	0	0.004007	0	0
PCDH15	65217	broad.mit.edu	37	10	55698675	55698675	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:55698675C>T	ENST00000373965.2	-	26	3688	c.3294G>A	c.(3292-3294)gtG>gtA	p.V1098V	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Silent_p.V1091V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1091V|PCDH15_ENST00000361849.3_Silent_p.V1091V|PCDH15_ENST00000395438.1_Silent_p.V1091V|PCDH15_ENST00000395445.1_Silent_p.V1098V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.V702V|PCDH15_ENST00000395433.1_Silent_p.V1069V|PCDH15_ENST00000437009.1_Silent_p.V1020V|PCDH15_ENST00000395432.2_Silent_p.V1054V|PCDH15_ENST00000414778.1_Silent_p.V1096V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1091	Cadherin 10.				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	p.V1096V(1)|p.V1091V(1)		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)				GAGGTCCATTCACATAGATAA	0.383000										HNSCC(58;0.16)			18	20					0	0	0.010504	0	0
PSG7	5676	broad.mit.edu	37	19	43430647	43430647	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43430647C>T	ENST00000446844.3	-	0	1020				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCCCGTATTTCACATTGATAG	0.517000													65	127					0	0	0.003610	0	0
KRT6B	3854	broad.mit.edu	37	12	52841151	52841151	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:52841151G>A	ENST00000252252.3	-	9	1565	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	506	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCAGGCCTAAGCCACTGCCGA	0.622000													10	30					0	0	0.001368	0	0
C4BPA	722	broad.mit.edu	37	1	207297618	207297618	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207297618C>T	ENST00000367070.3	+	6	807	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	205	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGCTGTGACCCCCGCTTCTC	0.493000													8	42					0	0	0.006214	0	0
NRK	203447	broad.mit.edu	37	X	105150410	105150410	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:105150410C>T	ENST00000428173.2	+	11	1152	c.849C>T	c.(847-849)tcC>tcT	p.S283S	NRK_ENST00000243300.9_Silent_p.S283S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	283	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTTTAGGTCCCGTAAGTTCC	0.403000										HNSCC(51;0.14)			4	2					0	0	0.009096	0	0
LIFR	3977	broad.mit.edu	37	5	38481743	38481743	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:38481743C>T	ENST00000263409.4	-	20	3410	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	LIFR_ENST00000453190.2_Missense_Mutation_p.G1083E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1083					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGACCACCCTCCTCCATTAGA	0.408000			T	PLAG1	salivary adenoma								46	80					0	0	0.003610	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528607	77528607	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:77528607T>G	ENST00000373304.3	-	3	929	c.637A>C	c.(637-639)Att>Ctt	p.I213L		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	213					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGGTCAAAATGATCATTGTG	0.313000													8	7					0	0	0.004482	0	0
TGM6	343641	broad.mit.edu	37	20	2380241	2380241	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:2380241G>A	ENST00000202625.2	+	6	768	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TGM6_ENST00000381423.1_Missense_Mutation_p.G236E|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	236					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGGTGCAAGGACAGTGGCAG	0.642000													21	65					0	0	0.006320	0	0
RNLS	55328	broad.mit.edu	37	10	90074264	90074264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:90074264G>A	ENST00000371947.3	-	6	2174	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	RNLS_ENST00000437752.1_Nonsense_Mutation_p.Q196*|RNLS_ENST00000331772.4_Nonsense_Mutation_p.Q279*	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	279						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCAATTGGCTGAGGCAAACCC	0.438000													34	32					0	0	0.005524	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054070	67054070	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:67054070G>A	ENST00000295568.4	+	3	732	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.E227K|KBTBD8_ENST00000469661.1_3'UTR	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	227	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGAACAGAATGAAAGAGAAGT	0.378000													18	34					0	0	0.004990	0	0
RYR2	6262	broad.mit.edu	37	1	237947684	237947684	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237947684G>A	ENST00000366574.2	+	90	12989	c.12672G>A	c.(12670-12672)gaG>gaA	p.E4224E	RYR2_ENST00000542537.1_Silent_p.E4208E|RYR2_ENST00000360064.6_Silent_p.E4230E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4224					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)			GCGAGAAGGAGAGGCCGGAAG	0.542000													10	23					0	0	0.006214	0	0
ZNF560	147741	broad.mit.edu	37	19	9577650	9577650	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9577650C>T	ENST00000301480.4	-	10	2186	c.1973G>A	c.(1972-1974)tGt>tAt	p.C658Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATGCATTACATTTATAGGG	0.383000													26	64					0	0	0.007291	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807310	15807310	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15807310C>T	ENST00000550308.1	+	12	1765	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	CYP4F12_ENST00000324632.9_Missense_Mutation_p.S462F	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTCCTTTCTCCGCAGGGCCC	0.562000													38	76					0	0	0.006999	0	0
MAST4	375449	broad.mit.edu	37	5	66396278	66396278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:66396278C>T	ENST00000404260.3	+	8	1245	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.Q121*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.Q116*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.Q131*|MAST4_ENST00000490016.2_Nonsense_Mutation_p.Q121*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.Q310*			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	313						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGTTCCTCCCAGGAGAAGTT	0.423000													14	51					0	0	0.004007	0	0
UBE2D1	7321	broad.mit.edu	37	10	60123403	60123403	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:60123403T>C	ENST00000373910.4	+	4	382	c.155T>C	c.(154-156)cTc>cCc	p.L52P		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						GTCTTCTTTCTCACTGTACAT	0.294000													13	12					0	0	0.006122	0	0
MROH2B	133558	broad.mit.edu	37	5	41000800	41000800	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41000800G>A	ENST00000399564.4	-	38	4780	c.4330C>T	c.(4330-4332)Ccc>Tcc	p.P1444S	MROH2B_ENST00000506092.2_Missense_Mutation_p.P999S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGGGGTTGGGATCCCAAAGG	0.483000													8	20					0	0	0.003080	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805876	27805876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:27805876G>A	ENST00000330180.2	-	1	241	c.242C>T	c.(241-243)cCg>cTg	p.P81L		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	81					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CAAGTGGCGCGGGATGATGCG	0.632000													41	99					0	0	0.009718	0	0
TTN	7273	broad.mit.edu	37	2	179643629	179643629	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179643629G>A	ENST00000589042.1	-	24	4404	c.4180C>T	c.(4180-4182)Ccc>Tcc	p.P1394S	TTN_ENST00000359218.5_Missense_Mutation_p.P1348S|TTN_ENST00000342992.6_Missense_Mutation_p.P1394S|TTN_ENST00000360870.5_Missense_Mutation_p.P1394S|TTN_ENST00000460472.2_Missense_Mutation_p.P1348S|TTN_ENST00000342175.6_Missense_Mutation_p.P1348S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P1394S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1394							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)			TCTAGTGTGGGAATGTAAGTC	0.383000													11	31					0	0	0.008291	0	0
IL12RB1	3594	broad.mit.edu	37	19	18193031	18193031	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18193031G>A	ENST00000600835.1	-	4	471	c.168C>T	c.(166-168)tcC>tcT	p.S56S	IL12RB1_ENST00000322153.6_Silent_p.S56S|IL12RB1_ENST00000593993.1_Silent_p.S56S|IL12RB1_ENST00000430026.2_Silent_p.S56S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	56	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AACGATCACTGGATATCCGAT	0.597000													11	14					0	0	0.000978	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192929	132192929	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:132192929G>A	ENST00000359827.3	-	2	1486	c.524C>T	c.(523-525)tCc>tTc	p.S175F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S175F|PLXNA4_ENST00000423507.2_Missense_Mutation_p.S175F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S175F			Q9HCM2	PLXA4_HUMAN	plexin A4	175	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTGCTGTAGGAGACGATCAC	0.532000													27	77					0	0	0.005443	0	0
CNTN5	53942	broad.mit.edu	37	11	100126491	100126491	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:100126491G>A	ENST00000524871.1	+	17	2295		c.e17-1		CNTN5_ENST00000279463.3_Splice_Site|CNTN5_ENST00000528682.1_Splice_Site|CNTN5_ENST00000418526.2_Splice_Site|CNTN5_ENST00000524560.1_Splice_Site|CNTN5_ENST00000527185.1_Splice_Site	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGACCTATAGGACCCCCAGG	0.448000													11	41					0	0	0.001368	0	0
CCDC110	256309	broad.mit.edu	37	4	186381146	186381146	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:186381146T>A	ENST00000307588.3	-	6	670	c.595A>T	c.(595-597)Aac>Tac	p.N199Y	CCDC110_ENST00000510617.1_Missense_Mutation_p.N199Y|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Missense_Mutation_p.N162Y	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	199						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CGATAAAAGTTATTATAATTC	0.338000													7	23					0	0	0.001984	0	0
CEP70	80321	broad.mit.edu	37	3	138224239	138224239	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:138224239T>A	ENST00000264982.3	-	13	1385	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	CEP70_ENST00000484888.1_Missense_Mutation_p.K373N|CEP70_ENST00000489254.1_Missense_Mutation_p.K221N|CEP70_ENST00000481834.1_Missense_Mutation_p.K373N|CEP70_ENST00000542237.1_Missense_Mutation_p.K353N	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	373					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GGACTCCCCCTTTGGTCTGTT	0.333000													141	315					0	0	0.003610	0	0
AP2A2	161	broad.mit.edu	37	11	1006571	1006571	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1006571C>T	ENST00000448903.2	+	17	2391	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Silent_p.F751F|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	750					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACGCAGTTCCTAAACTTTA	0.423000													27	88					0	0	0.009535	0	0
DNMBP	23268	broad.mit.edu	37	10	101715817	101715817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:101715817G>A	ENST00000342239.3	-	4	1505	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	DNMBP_ENST00000324109.4_Nonsense_Mutation_p.Q472*|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	472					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACTGGCTTCTGAAGAGTTTTT	0.488000													43	56					0	0	0.002522	0	0
PCM1	5108	broad.mit.edu	37	8	17819629	17819629	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:17819629C>T	ENST00000325083.8	+	16	2848	c.2409C>T	c.(2407-2409)acC>acT	p.T803T	PCM1_ENST00000524226.1_Silent_p.T804T|PCM1_ENST00000519253.1_Silent_p.T803T	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	803					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AACACGAGACCAGTACAAGCA	0.378000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								4	20					0	0	0.009096	0	0
DNAH1	25981	broad.mit.edu	37	3	52422519	52422519	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52422519A>C	ENST00000420323.2	+	58	9518	c.9257A>C	c.(9256-9258)gAc>gCc	p.D3086A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3086	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTGGAGGACGGCATCGCC	0.617000													4	12					0	0	0.009096	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323726	79323726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:79323726C>T	ENST00000428286.1	-	8	3587	c.2387G>A	c.(2386-2388)gGa>gAa	p.G796E	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G1155E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1155					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCCATGTATCCTTCTGTTTG	0.517000													37	50					0	0	0.003755	0	0
CHD8	57680	broad.mit.edu	37	14	21868700	21868700	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21868700G>A	ENST00000399982.2	-	22	4506	c.4442C>T	c.(4441-4443)aCc>aTc	p.T1481I	CHD8_ENST00000430710.3_Missense_Mutation_p.T1202I|CHD8_ENST00000557364.1_Missense_Mutation_p.T1481I|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1481					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCGACAAATGGTCTCCACATC	0.428000													7	21					0	0	0.003080	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021405	245021405	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:245021405G>A	ENST00000444376.2	-	7	1579	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S	HNRNPU_ENST00000283179.9_Missense_Mutation_p.P468S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	468	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCAGGTATTGGAAAATATGGC	0.448000													7	23					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33920732	33920732	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:33920732C>T	ENST00000389232.4	+	21	2705	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	RYR3_ENST00000415757.3_Missense_Mutation_p.L879F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	879	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCCATGAGCTTTGGGGAAT	0.453000													25	21					0	0	0.006320	0	0
TRPV5	56302	broad.mit.edu	37	7	142609899	142609899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142609899G>A	ENST00000265310.1	-	13	1885	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	513					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTCTGTCTGGAAAATGATA	0.463000													56	84					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47563277	47563277	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:47563277C>T	ENST00000285039.7	-	4	697	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	133	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G133E(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCCATGTCTCCCATGTTTTG	0.478000													15	27					0	0	0.007413	0	0
RELN	5649	broad.mit.edu	37	7	103322673	103322673	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:103322673G>A	ENST00000424685.2	-	11	1338	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	RELN_ENST00000428762.1_Silent_p.F393F|RELN_ENST00000343529.5_Silent_p.F393F			P78509	RELN_HUMAN	reelin	393					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATTTCCATGGAAATAAATGG	0.448000													65	83					0	0	0.003610	0	0
HGD	3081	broad.mit.edu	37	3	120393830	120393830	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120393830G>A	ENST00000283871.5	-	3	553	c.94C>T	c.(94-96)Cct>Tct	p.P32S	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	32					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAGACCTGAGGATTATTCTGA	0.473000													39	98					0	0	0.006230	0	0
ZNF99	7652	broad.mit.edu	37	19	22940058	22940058	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:22940058G>A	ENST00000397104.3	-	6	2272	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.348000													13	34					0	0	0.001368	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801430	133801430	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:133801430T>A	ENST00000321016.8	-	10	1516	c.1286A>T	c.(1285-1287)gAg>gTg	p.E429V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E429V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	429	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGCCTGTACTCCCAGCCTGG	0.652000													11	39					0	0	0.001368	0	0
PLK2	10769	broad.mit.edu	37	5	57755647	57755647	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:57755647G>A	ENST00000274289.3	-	1	440	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	47					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TTGCGCCTGGGACTGAGGTGG	0.672000													11	30					0	0	0.000978	0	0
C1orf200	644997	broad.mit.edu	37	1	9714387	9714387	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:9714387C>T	ENST00000377320.3	-	1	257	c.108G>A	c.(106-108)caG>caA	p.Q36Q	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCACTAAGCTGTGGGCTCC	0.582000													14	66					0	0	0.002450	0	0
MMP26	56547	broad.mit.edu	37	11	5013468	5013468	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5013468C>T	ENST00000380390.1	+	7	998	c.782C>T	c.(781-783)cCt>cTt	p.P261L	MMP26_ENST00000300762.1_Missense_Mutation_p.P261L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	261					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTGACATACCTTAATGTTAG	0.403000													5	14					0	0	0.001168	0	0
UNC5C	8633	broad.mit.edu	37	4	96163673	96163673	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:96163673C>T	ENST00000453304.1	-	7	1363	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	UNC5C_ENST00000506749.1_Missense_Mutation_p.E339K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	339	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCGTGCACTCCCTCCTGCGC	0.582000													7	18					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9064721	9064721	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9064721G>A	ENST00000397910.4	-	3	22928	c.22725C>T	c.(22723-22725)tcC>tcT	p.S7575S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7577	Ser-rich.|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						CTTCTGTCCTGGAGACCTCAG	0.502000													36	81					0	0	0.004878	0	0
MPP7	143098	broad.mit.edu	37	10	28348640	28348640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:28348640C>T	ENST00000337532.5	-	15	1513	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	MPP7_ENST00000375732.1_Missense_Mutation_p.D413N|MPP7_ENST00000540098.1_Missense_Mutation_p.D413N|MPP7_ENST00000445954.2_Missense_Mutation_p.D288N|MPP7_ENST00000375719.3_Missense_Mutation_p.D413N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	413	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCAACACCATCACTCTCCTGG	0.343000													13	43					0	0	0.001855	0	0
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	rs148650284		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9577542C>T	ENST00000301480.4	-	10	2294	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378000													59	94					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128483492	128483492	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:128483492C>T	ENST00000325888.8	+	18	2933	c.2672C>T	c.(2671-2673)aCg>aTg	p.T891M	FLNC_ENST00000346177.6_Missense_Mutation_p.T891M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	891					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCCACTTCACGGTGCTGACC	0.612000													13	47					0	0	0.002450	0	0
KCNH5	27133	broad.mit.edu	37	14	63175075	63175075	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:63175075G>A	ENST00000322893.7	-	11	2386	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	706	Calmodulin-binding (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGAGCTTTCTGACTGGGTGGT	0.542000													39	118					0	0	0.003214	0	0
DSC3	1825	broad.mit.edu	37	18	28598670	28598670	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28598670C>T	ENST00000434452.1	-	8	1193	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	DSC3_ENST00000360428.4_Missense_Mutation_p.D347N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	347	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.D347Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCATTTGAATCTGTTACTGTT	0.333000													10	49					0	0	0.000978	0	0
RAVER1	125950	broad.mit.edu	37	19	10431579	10431579	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10431579G>A	ENST00000293677.6	-	9	1654	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	525						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TTCAGGTAGGGATTCAGGGGA	0.701000													6	28					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113299325	113299325	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:113299325C>T	ENST00000297405.5	-	58	9543	c.9299G>A	c.(9298-9300)gGc>gAc	p.G3100D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2931D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3030D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3060D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3100	Sushi 22.					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						GGTCCAACTGCCATTAGCTAA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	62					0	0	0.002780	0	0
TAOK2	9344	broad.mit.edu	37	16	29996834	29996834	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:29996834G>A	ENST00000308893.4	+	14	2766	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	TAOK2_ENST00000543033.1_Missense_Mutation_p.E575K|TAOK2_ENST00000416441.2_Missense_Mutation_p.E402K|TAOK2_ENST00000279394.3_Missense_Mutation_p.E575K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	575					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGAAGAAGGAGCTGGCTGC	0.647000													5	15					0	0	0.000602	0	0
MMP27	64066	broad.mit.edu	37	11	102573832	102573832	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102573832G>A	ENST00000260229.4	-	3	450	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P120L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCCATATCCGGAGTATAGTT	0.348000													10	32					0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73479983	73479983	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:73479983C>T	ENST00000523207.1	+	2	602	c.14C>T	c.(13-15)gCt>gTt	p.A5V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	5					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCAGAAAAGGCTCCCCCGGGC	0.507000													25	70					0	0	0.004656	0	0
PRDM4	11108	broad.mit.edu	37	12	108145331	108145331	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:108145331G>A	ENST00000228437.5	-	5	1446	c.987C>T	c.(985-987)gtC>gtT	p.V329V	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	329					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGATGGAGGAGACAGCCACAG	0.498000													34	26					0	0	0.004878	0	0
ZNF813	126017	broad.mit.edu	37	19	53994127	53994127	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:53994127C>T	ENST00000396403.4	+	4	769	c.641C>T	c.(640-642)tCt>tTt	p.S214F	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGAGAAAAGTCTTTCCAATGT	0.343000													27	73					0	0	0.006320	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901625	2901625	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:2901625C>T	ENST00000254695.8	+	14	1245	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	RAP1GAP2_ENST00000540393.2_Silent_p.I366I|RAP1GAP2_ENST00000366401.4_Silent_p.I370I|RAP1GAP2_ENST00000542807.1_Silent_p.I385I	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	385	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCTACATCGTCGTGCAGG	0.532000													9	64					0	0	0.004482	0	0
NOL12	79159	broad.mit.edu	37	22	38086704	38086704	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38086704G>A	ENST00000359114.4	+	5	452	c.381_splice	c.e5-1	p.G128_splice	RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	128						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GCCTCTTTAGGGAGGGGCTGG	0.627000													54	123					0	0	0.003610	0	0
DPP10	57628	broad.mit.edu	37	2	116447454	116447454	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:116447454C>T	ENST00000410059.1	+	7	1013	c.533C>T	c.(532-534)tCc>tTc	p.S178F	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.S128F|DPP10_ENST00000393147.2_Missense_Mutation_p.S182F|DPP10_ENST00000310323.8_Missense_Mutation_p.S171F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	178					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						GTAGAGGACTCCGTCTTGCAG	0.443000													34	86					0	0	0.007835	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814320	106814320	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:106814320G>A	ENST00000407775.2	+	8	2260	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.V401V|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.V538V|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.V538V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	670					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGTTGATGTGAAAAATCCCA	0.443000													10	20					0	0	0.006214	0	0
ZNF574	64763	broad.mit.edu	37	19	42584958	42584958	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42584958C>T	ENST00000600245.1	+	2	2855	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	ZNF574_ENST00000222339.7_Missense_Mutation_p.R824C|ZNF574_ENST00000359044.4_Missense_Mutation_p.R734C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCCCCTGCCCGCCGCCGGGG	0.677000													41	90					0	0	0.006999	0	0
OR2W1	26692	broad.mit.edu	37	6	29012046	29012046	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:29012046T>A	ENST00000377175.1	-	1	971	c.907A>T	c.(907-909)Aaa>Taa	p.K303*		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTCATCAGTTTCTTCAGGGCA	0.378000													8	18					0	0	0.006214	0	0
COQ5	84274	broad.mit.edu	37	12	120966880	120966880	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120966880C>T	ENST00000288532.6	-	1	105	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	COQ5_ENST00000445328.2_Missense_Mutation_p.R22Q	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	22					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGCAGCCCCGCATCGCCCG	0.652000													10	29					0	0	0.006214	0	0
GPR179	440435	broad.mit.edu	37	17	36499102	36499102	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:36499102C>T	ENST00000342292.4	-	1	591	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	191						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTGTCCAGGTCCCCAGGAGGG	0.637000													15	49					0	0	0.003163	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455607	50455607	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50455607C>T	ENST00000447370.2	-	9	1786	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G470R|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	566					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACGCCAGCTCCCAGGGCAGCC	0.657000													21	65					0	0	0.002299	0	0
CWC22	57703	broad.mit.edu	37	2	180810045	180810045	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:180810045G>A	ENST00000410053.3	-	20	2837	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	CWC22_ENST00000295749.6_Silent_p.F846F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	846						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CTTTTCTTCTGAAATTTTCAC	0.363000													37	76					0	0	0.003755	0	0
RFPL3	10738	broad.mit.edu	37	22	32756362	32756362	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:32756362C>T	ENST00000249007.4	+	2	702	c.497C>T	c.(496-498)tCc>tTc	p.S166F	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.S137F|RFPL3_ENST00000397468.1_Missense_Mutation_p.S137F	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	166	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TTTGACGTGTCCGTTTGCATC	0.567000													34	72					0	0	0.004289	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679778	160679778	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:160679778G>A	ENST00000366953.3	-	1	270	c.12C>T	c.(10-12)acC>acT	p.T4T	SLC22A2_ENST00000366952.1_Intron|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	4					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CATCGTCCACGGTGGTGGGCA	0.622000													8	33					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13769134	13769134	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13769134C>T	ENST00000265104.4	-	58	9936	c.9832G>A	c.(9832-9834)Gcc>Acc	p.A3278T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3278	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGCAATGGCTTTGTCTTTA	0.468000									Kartagener syndrome				68	144					0	0	0.003610	0	0
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:99581465G>A	ENST00000481138.1	-	6	1501	c.840C>T	c.(838-840)ttC>ttT	p.F280F	ZNF782_ENST00000535338.1_Silent_p.F148F	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358000													24	33					0	0	0.003954	0	0
WNT8A	7478	broad.mit.edu	37	5	137423581	137423581	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:137423581G>A	ENST00000506684.1	+	3	618	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	WNT8A_ENST00000398754.1_Missense_Mutation_p.E110K			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	110					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTGACTTCGAAAACTGTGG	0.483000													47	105					0	0	0.003214	0	0
KRT4	3851	broad.mit.edu	37	12	53207961	53207961	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:53207961G>A	ENST00000293774.4	-	1	374	c.104C>T	c.(103-105)gCc>gTc	p.A35V	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTTGCAGGGGCATAAAGGGA	0.557000													12	24					0	0	0.000978	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112150	64112150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64112150G>A	ENST00000356786.5	+	14	2181	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	713					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCTGGGAAGGCCCAATCCC	0.622000													12	29					0	0	0.001368	0	0
ZNF423	23090	broad.mit.edu	37	16	49670894	49670894	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:49670894G>A	ENST00000561648.1	-	4	2222	c.2169C>T	c.(2167-2169)acC>acT	p.T723T	ZNF423_ENST00000535559.1_Silent_p.T606T|ZNF423_ENST00000562871.1_Silent_p.T663T|ZNF423_ENST00000262383.2_Silent_p.T723T|ZNF423_ENST00000567169.1_Silent_p.T606T|ZNF423_ENST00000563137.2_Silent_p.T663T|ZNF423_ENST00000562520.1_Silent_p.T663T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	723					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTGACACAGGGTGCAGTGGT	0.557000													19	23					0	0	0.007413	0	0
DGKG	1608	broad.mit.edu	37	3	185882732	185882732	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:185882732T>G	ENST00000265022.3	-	23	2710	c.2171A>C	c.(2170-2172)aAg>aCg	p.K724T	DGKG_ENST00000544847.1_Missense_Mutation_p.K665T|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000382164.4_Missense_Mutation_p.K685T|DGKG_ENST00000344484.4_Missense_Mutation_p.K699T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	724					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCTGCACTCTTCAGGCCGGT	0.587000													18	31					0	0	0.007413	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	G	A	rs142884324	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:184008046G>A	ENST00000402825.3	+	14	1909	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_ENST00000357474.5_Missense_Mutation_p.E565K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.E490K|ECE2_ENST00000404464.3_Missense_Mutation_p.E519K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCACAGTACGAAATTTCTGA	0.448000													7	10					0	0	0.003080	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182268	140182268	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140182268G>A	ENST00000522353.2	+	1	1486	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E496K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGGTGGAACGGCGGGT	0.677000													34	60					0	0	0.003610	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764433	109764433	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:109764433G>A	ENST00000602699.1	+	0	894					NR_002718.2																						CTTTGAACTGGGATTAGTTGC	0.507000													20	6					0	0	0.001882	0	0
MYCBP2	23077	broad.mit.edu	37	13	77742742	77742742	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:77742742G>A	ENST00000407578.2	-	40	6201	c.5935C>T	c.(5935-5937)Ccg>Tcg	p.P1979S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.P1941S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P1941S|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAACTGACGGAAGCAATTGT	0.438000													25	52					0	0	0.004656	0	0
XCR1	2829	broad.mit.edu	37	3	46062686	46062686	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46062686G>A	ENST00000309285.3	-	2	1110	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	XCR1_ENST00000542109.1_Missense_Mutation_p.R252W	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	252					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATCTGGGTCCGAAACAGCGTC	0.602000													15	33					0	0	0.004007	0	0
TAAR2	9287	broad.mit.edu	37	6	132939145	132939145	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:132939145G>A	ENST00000275191.2	-	1	172	c.65C>T	c.(64-66)tCc>tTc	p.S22F	TAAR2_ENST00000537809.1_Missense_Mutation_p.S22F|TAAR2_ENST00000367931.1_Missense_Mutation_p.S67F	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	67						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GTAGGAAATGGAAATTATCAT	0.428000													27	34					0	0	0.005443	0	0
PADI6	353238	broad.mit.edu	37	1	17698794	17698794	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:17698794C>T	ENST00000434762.2	+	0	104							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCACCTGTCCCTGGACAGCC	0.612000													57	112					0	0	0.003610	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712561	140712561	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140712561C>T	ENST00000517417.1	+	1	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGA1_ENST00000378105.3_Silent_p.F770F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATTTTCCCCCAGCCCA	0.547000													49	98					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36879994	36879994	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:36879994C>T	ENST00000429976.2	-	19	5501	c.5252_splice	c.e19-1	p.E1752_splice	TRANK1_ENST00000428977.2_Splice_Site_p.E1202_splice|TRANK1_ENST00000301807.6_Splice_Site_p.E1202_splice			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1752					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AACTGCTTTTCCCTAGGGGAA	0.438000													12	39					0	0	0.001368	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209946	30209946	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:30209946G>A	ENST00000518096.1	+	0	558																											CACTGGGTGGGGGCACAGGCT	0.567000													13	23					0	0	0.001855	0	0
FAT1	2195	broad.mit.edu	37	4	187549860	187549860	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:187549860A>T	ENST00000441802.2	-	8	4590	c.4381T>A	c.(4381-4383)Tat>Aat	p.Y1461N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1461	Cadherin 13.				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						ACAACTTCATACTTTGATGTA	0.348000										HNSCC(5;0.00058)			13	31					0	0	0.002450	0	0
RALGAPB	57148	broad.mit.edu	37	20	37199425	37199425	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:37199425C>T	ENST00000262879.6	+	28	4361	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L	RALGAPB_ENST00000397042.3_Silent_p.L1356L|RALGAPB_ENST00000397038.1_Silent_p.L1138L|RALGAPB_ENST00000397040.1_Silent_p.L1359L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1359	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTTTCCCCTCTCAGAGCTGA	0.373000													17	41					0	0	0.007413	0	0
TMEM131	23505	broad.mit.edu	37	2	98422129	98422129	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:98422129G>A	ENST00000186436.5	-	20	2321	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	698						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGTGAGAAGGAATTCATAAT	0.333000													41	106					0	0	0.006999	0	0
MUC3A	4584	broad.mit.edu	37	7	100550147	100550147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100550147C>T	ENST00000379458.4	+	2	728	c.728C>T	c.(727-729)aCc>aTc	p.243_243insI	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACGTCCCCAACCCCAGTATTT	0.483000													7	314					0	0	0.004990	0	0
OR9G4	283189	broad.mit.edu	37	11	56510580	56510580	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56510580G>A	ENST00000302957.3	-	1	707	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TAGCCAGGAGGATGTTGACAT	0.488000													33	61					0	0	0.003755	0	0
C12orf40	283461	broad.mit.edu	37	12	40115044	40115044	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:40115044G>A	ENST00000324616.5	+	13	2104	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	650										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAATCCATAAGAACAACTAAT	0.333000													10	33					0	0	0.008291	0	0
RCL1	10171	broad.mit.edu	37	9	4826969	4826969	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:4826969C>T	ENST00000381750.4	+	3	543	c.320C>T	c.(319-321)cCa>cTa	p.P107L	RCL1_ENST00000381732.3_Missense_Mutation_p.P107L	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	107					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TGCTTGGCTCCATTTATGAAG	0.458000													42	220					0	0	0.007835	0	0
SALL2	6297	broad.mit.edu	37	14	21990313	21990313	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21990313G>A	ENST00000317492.5	-	3	469	c.457C>T	c.(457-459)Cac>Tac	p.H153Y	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000538754.1_Missense_Mutation_p.H151Y|SALL2_ENST00000450879.2_Silent_p.S850S			Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	931							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GAGTGGTAGTGGAGGTGGAGC	0.562000													14	15					0	0	0.003163	0	0
FLNA	2316	broad.mit.edu	37	X	153577854	153577854	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:153577854G>A	ENST00000422373.1	-	46	7856	c.7608C>T	c.(7606-7608)gcC>gcT	p.A2536A	FLNA_ENST00000369856.3_Silent_p.A677A|FLNA_ENST00000360319.4_Silent_p.A2536A|FLNA_ENST00000344736.4_Silent_p.A2504A|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Silent_p.A2544A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2544	Hinge 2.|Self-association site, tail.				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)					CATGCTGGGGGGCACAGGTGG	0.652000													29	23					0	0	0.008361	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596353	24596353	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:24596353C>T	ENST00000535378.1	-	4	1164	c.522G>A	c.(520-522)acG>acA	p.T174T	KIAA0319_ENST00000543707.1_Silent_p.T183T|KIAA0319_ENST00000537886.1_Silent_p.T183T|KIAA0319_ENST00000378214.3_Silent_p.T183T|KIAA0319_ENST00000430948.2_Silent_p.T138T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	183					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCCCCAGTCCGTGTACTCGG	0.617000													10	22					0	0	0.008291	0	0
PLEC	5339	broad.mit.edu	37	8	144996939	144996939	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144996939C>T	ENST00000322810.4	-	31	7738	c.7569G>A	c.(7567-7569)aaG>aaA	p.K2523K	PLEC_ENST00000345136.3_Silent_p.K2386K|PLEC_ENST00000356346.3_Silent_p.K2372K|PLEC_ENST00000527096.1_Silent_p.K2409K|PLEC_ENST00000436759.2_Silent_p.K2413K|PLEC_ENST00000357649.2_Silent_p.K2390K|PLEC_ENST00000398774.2_Silent_p.K2354K|PLEC_ENST00000354958.2_Silent_p.K2364K|PLEC_ENST00000354589.3_Silent_p.K2386K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2523	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACACGCAGCTTGAGGCGCT	0.706000													3	13					0	0	0.004672	0	0
NLRP8	126205	broad.mit.edu	37	19	56466710	56466710	+	Missense_Mutation	SNP	G	G	A	rs150630809	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56466710G>A	ENST00000291971.3	+	3	1357	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTTCGTCCGGTATATTTCT	0.493000													31	69					0	0	0.003271	0	0
NRP1	8829	broad.mit.edu	37	10	33475384	33475384	+	Missense_Mutation	SNP	C	C	T	rs139081795		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:33475384C>T	ENST00000265371.4	-	15	2620	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	NRP1_ENST00000395995.1_Missense_Mutation_p.E699K|NRP1_ENST00000374867.2_Missense_Mutation_p.E699K			O14786	NRP1_HUMAN	neuropilin 1	699	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCTGATTTTCGTCAGCTTGG	0.493000													21	53					0	0	0.003330	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760924	6760924	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6760924C>T	ENST00000245908.6	-	3	413	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	48	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCAGGAGATCACGGGGTTGC	0.642000													13	31					0	0	0.003163	0	0
DERL2	51009	broad.mit.edu	37	17	5383830	5383830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:5383830G>A	ENST00000158771.4	-	5	455	c.400C>T	c.(400-402)Cga>Tga	p.R134*	DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	134					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GGGTTCCTTCGGCTCCACACA	0.483000													28	136					0	0	0.008361	0	0
HDAC9	9734	broad.mit.edu	37	7	18633644	18633644	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:18633644G>A	ENST00000406451.3	+	6	797	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	HDAC9_ENST00000441542.2_Missense_Mutation_p.R219Q|HDAC9_ENST00000406072.1_Missense_Mutation_p.R247Q|HDAC9_ENST00000456174.2_Missense_Mutation_p.R188Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000405010.3_Missense_Mutation_p.R216Q|HDAC9_ENST00000428307.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R219Q|HDAC9_ENST00000524023.1_Missense_Mutation_p.R183Q|HDAC9_ENST00000417496.2_Missense_Mutation_p.R258Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	216	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCCCCCTTCGAAAAACTGGT	0.418000													28	48					0	0	0.005443	0	0
OR4K17	390436	broad.mit.edu	37	14	20586278	20586278	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20586278C>T	ENST00000315543.4	+	1	713	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGCATAATCTCCCTGAGCTGT	0.413000													25	99					0	0	0.003954	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159064	18159064	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18159064C>T	ENST00000396275.2	+	3	676	c.315C>T	c.(313-315)ccC>ccT	p.P105P		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	105						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACCTTTCCCTACTTTATAG	0.547000													29	88					0	0	0.007291	0	0
RSPO1	284654	broad.mit.edu	37	1	38078505	38078505	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38078505G>A	ENST00000356545.2	-	8	1501	c.714C>T	c.(712-714)ggC>ggT	p.G238G	RSPO1_ENST00000401071.2_Silent_p.G175G|RSPO1_ENST00000401068.1_Silent_p.G238G|RSPO1_ENST00000401069.1_Silent_p.G238G|RSPO1_ENST00000401070.1_Silent_p.G175G|RSPO1_ENST00000373059.1_Silent_p.G211G	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	238					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTTCGAGAGCCAGCACCCG	0.642000													33	46					0	0	0.002445	0	0
CASC1	55259	broad.mit.edu	37	12	25267768	25267768	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:25267768G>A	ENST00000354189.5	-	13	1642	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	CASC1_ENST00000320267.9_Missense_Mutation_p.S472F|CASC1_ENST00000537577.1_Missense_Mutation_p.S360F|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.S413F|CASC1_ENST00000395987.3_Missense_Mutation_p.S478F|CASC1_ENST00000395990.2_Missense_Mutation_p.S432F	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	472										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGGTTTGTAGGATACATTGCT	0.363000													12	45					0	0	0.004007	0	0
ADAM28	10863	broad.mit.edu	37	8	24193082	24193082	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24193082C>T	ENST00000265769.4	+	14	1605	c.1495C>T	c.(1495-1497)Cac>Tac	p.H499Y	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.H266Y|ADAM28_ENST00000437154.2_Missense_Mutation_p.H499Y|ADAM28_ENST00000397649.3_Missense_Mutation_p.H246Y|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	499	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCTTGCCATCACGGGAAGGG	0.527000													10	18					0	0	0.008291	0	0
OSBPL9	114883	broad.mit.edu	37	1	52249660	52249660	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:52249660C>T	ENST00000371710.3	+	18	1823	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	OSBPL9_ENST00000435686.2_Silent_p.F364F|OSBPL9_ENST00000428468.1_Silent_p.F529F|OSBPL9_ENST00000530544.1_Silent_p.F448F|OSBPL9_ENST00000371714.1_Silent_p.F516F|OSBPL9_ENST00000453295.1_Silent_p.F512F|OSBPL9_ENST00000337809.4_Silent_p.F534F|OSBPL9_ENST00000486942.1_Silent_p.F351F|OSBPL9_ENST00000447887.1_Silent_p.F539F|OSBPL9_ENST00000462759.1_Silent_p.F351F|OSBPL9_ENST00000531828.1_Silent_p.F364F|OSBPL9_ENST00000361556.5_Silent_p.F419F	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	529					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AATCAAAATTCCTTGGGATGT	0.368000													16	53					0	0	0.007413	0	0
CA11	770	broad.mit.edu	37	19	49143141	49143141	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:49143141C>T	ENST00000084798.4	-	5	1151		c.e5-1		SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI							extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TGAGCTGCACCTGGGGGTAGC	0.597000													18	60					0	0	0.006122	0	0
AXDND1	126859	broad.mit.edu	37	1	179497516	179497516	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:179497516G>A	ENST00000367618.3	+	23	3052	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	889	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGGAGAAGATGAAAATGTTCA	0.398000													17	27					0	0	0.006122	0	0
BRWD1	54014	broad.mit.edu	37	21	40574327	40574327	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:40574327A>G	ENST00000342449.3	-	38	4587	c.4509T>C	c.(4507-4509)ggT>ggC	p.G1503G	BRWD1_ENST00000380800.3_Silent_p.G1503G|BRWD1_ENST00000333229.2_Silent_p.G1503G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGAAGAGTCACCAGAAGTAA	0.408000													15	44					0	0	0.004990	0	0
FAM170A	340069	broad.mit.edu	37	5	118970014	118970014	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:118970014G>A	ENST00000515256.1	+	3	743	c.571G>A	c.(571-573)Gag>Aag	p.E191K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	191						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGTGGGGAGGAGAAAGAGCA	0.562000													28	86					0	0	0.006320	0	0
ZNF646	9726	broad.mit.edu	37	16	31088662	31088662	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:31088662G>A	ENST00000394979.2	+	1	1440	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ZNF646_ENST00000300850.5_Silent_p.E339E			O15015	ZN646_HUMAN	zinc finger protein 646	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACACAGATGAGAGCAGCCAGG	0.632000													7	7					0	0	0.001984	0	0
GALNTL6	442117	broad.mit.edu	37	4	173852374	173852374	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:173852374G>A	ENST00000506823.1	+	9	1761	c.1104G>A	c.(1102-1104)agG>agA	p.R368R	GALNTL6_ENST00000508122.1_Silent_p.R351R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	368	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATATCTACAGGAAGTACGTTC	0.423000													10	103					0	0	0.008291	0	0
SETX	23064	broad.mit.edu	37	9	135156886	135156886	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:135156886G>A	ENST00000372169.2	-	20	6804	c.6622C>T	c.(6622-6624)Cct>Tct	p.P2208S	SETX_ENST00000224140.5_Missense_Mutation_p.P2208S|SETX_ENST00000393220.1_Missense_Mutation_p.P2208S			Q7Z333	SETX_HUMAN	senataxin	2208					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGCTGCTTAGGATCTCCTACT	0.418000													33	33					0	0	0.004289	0	0
USP19	10869	broad.mit.edu	37	3	49148963	49148963	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49148963G>C	ENST00000453664.1	-	21	3469	c.3151C>G	c.(3151-3153)Cca>Gca	p.P1051A	USP19_ENST00000398888.2_Missense_Mutation_p.P960A|USP19_ENST00000434032.2_Missense_Mutation_p.P1061A|USP19_ENST00000417901.1_Missense_Mutation_p.P1063A|USP19_ENST00000398892.3_Missense_Mutation_p.P1000A|USP19_ENST00000398896.1_Missense_Mutation_p.P768A|USP19_ENST00000398898.2_Missense_Mutation_p.P1000A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	960					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGCCAGCTGGCAAGGAGCCA	0.612000													15	38					0	0	0.002450	0	0
ARMC4	55130	broad.mit.edu	37	10	28229547	28229547	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:28229547G>A	ENST00000305242.5	-	13	2023	c.1931C>T	c.(1930-1932)tCt>tTt	p.S644F	ARMC4_ENST00000545014.1_Missense_Mutation_p.S169F|ARMC4_ENST00000537576.1_Missense_Mutation_p.S336F	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	644							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTTCATGAGAAGTCTTCAG	0.512000													17	90					0	0	0.004007	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54922077	54922077	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54922077C>T	ENST00000293373.6	+	22	2501	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L758F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	808					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GACCATCATCCTCTCCCCAGC	0.547000													51	133					0	0	0.003610	0	0
DCP1A	55802	broad.mit.edu	37	3	53326711	53326711	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:53326711G>A	ENST00000607628.1	-	7	880	c.771C>T	c.(769-771)ttC>ttT	p.F257F	DCP1A_ENST00000294241.6_Silent_p.F257F|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.F219F	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GAAATGGTAGGAATGAATTGG	0.522000													6	19					0	0	0.001168	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480684	140480684	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140480684G>A	ENST00000231130.2	+	1	451	c.451G>A	c.(451-453)Gta>Ata	p.V151I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		151	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAGGAACAGTAATTCCTTT	0.433000													26	80					0	0	0.003330	0	0
MYH1	4619	broad.mit.edu	37	17	10400472	10400472	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10400472C>T	ENST00000226207.5	-	33	4664	c.4570G>A	c.(4570-4572)Gga>Aga	p.G1524R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1524						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGCGCTTTCCTCCTTCTGCA	0.363000													8	22					0	0	0.004482	0	0
FABP1	2168	broad.mit.edu	37	2	88425840	88425840	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:88425840C>T	ENST00000393750.3	-	2	126	c.95G>A	c.(94-96)gGg>gAg	p.G32E	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.G32E			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	32					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATATCCTTCCCCTTCTGGAT	0.522000													65	141					0	0	0.003610	0	0
DEGS2	123099	broad.mit.edu	37	14	100615479	100615479	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:100615479G>A	ENST00000305631.5	-	2	1226	c.651C>T	c.(649-651)ttC>ttT	p.F217F	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	217					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CCAGGCCCAGGAAGGAGCTGG	0.637000													25	70					0	0	0.003954	0	0
UTP20	27340	broad.mit.edu	37	12	101715375	101715375	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:101715375C>T	ENST00000261637.4	+	25	3183	c.3009C>T	c.(3007-3009)gcC>gcT	p.A1003A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1003					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						TGAAAACAGCCCACCGAGCAG	0.333000													13	37					0	0	0.002450	0	0
BMPER	168667	broad.mit.edu	37	7	34091495	34091495	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:34091495C>T	ENST00000297161.2	+	9	1073	c.699C>T	c.(697-699)ctC>ctT	p.L233L	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Silent_p.L233L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	233					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTTTGACCTCCCTTTTGGGA	0.458000													43	93					0	0	0.003610	0	0
BCL6B	255877	broad.mit.edu	37	17	6930095	6930095	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:6930095C>T	ENST00000293805.5	+	7	1218	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	376						nucleus	zinc ion binding			skin(1)	1						AACGCACAGCCGCATCCATTC	0.572000													40	48					0	0	0.009718	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659405	176659405	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:176659405C>T	ENST00000367662.3	+	5	3434	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P757L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	757					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCAATGACCCCTGCAAGGAG	0.557000													39	68					0	0	0.009718	0	0
KPRP	448834	broad.mit.edu	37	1	152732718	152732718	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152732718C>T	ENST00000368773.1	+	2	712	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KPRP_ENST00000606109.1_Silent_p.F218F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	218						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTGTTTCCCTCAGTATC	0.572000													20	114					0	0	0.002299	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945675	16945675	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:16945675G>A	ENST00000412962.1	-	0	1844																											TGCTGCCTAGGAAATGTGCCC	0.617000													17	223					0	0	0.002299	0	0
PHC3	80012	broad.mit.edu	37	3	169835174	169835174	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:169835174G>A	ENST00000494943.1	-	10	2065	c.1997C>T	c.(1996-1998)cCa>cTa	p.P666L	PHC3_ENST00000495893.1_Missense_Mutation_p.P678L|PHC3_ENST00000467570.1_Missense_Mutation_p.P625L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	666	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AAGTAACAATGGAGGTGGTGG	0.433000													16	34					0	0	0.003163	0	0
TRIM54	57159	broad.mit.edu	37	2	27521505	27521505	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27521505C>T	ENST00000296098.4	+	2	509	c.239C>T	c.(238-240)tCg>tTg	p.S80L	TRIM54_ENST00000380075.2_Missense_Mutation_p.S80L	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	80					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGCCCATCGTGCAGGCAT	0.572000													11	37					0	0	0.000978	0	0
LSM14B	149986	broad.mit.edu	37	20	60705335	60705335	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:60705335C>T	ENST00000279068.6	+	5	816	c.656C>T	c.(655-657)cCt>cTt	p.P219L	LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	219					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACAGAAGACCTCAGAGGAGG	0.547000													9	6					0	0	0.006214	0	0
POMT2	29954	broad.mit.edu	37	14	77765075	77765075	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:77765075G>A	ENST00000261534.4	-	8	1165	c.963C>T	c.(961-963)gcC>gcT	p.A321A		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	321					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CTGAAAGCCGGGCCTGGAAGG	0.532000													11	8					0	0	0.001368	0	0
CSMD2	114784	broad.mit.edu	37	1	33985490	33985490	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:33985490C>T	ENST00000373381.4	-	69	10834	c.10658G>A	c.(10657-10659)aGc>aAc	p.S3553N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3409						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCACTGAGCTGCTGTTGGA	0.562000													9	33					0	0	0.006214	0	0
TINAG	27283	broad.mit.edu	37	6	54173538	54173538	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:54173538G>A	ENST00000259782.4	+	1	286	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	TINAG_ENST00000370869.3_Missense_Mutation_p.E60K|TINAG_ENST00000370864.3_Missense_Mutation_p.E46K|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	64	SMB.				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGCTGTTGTGAAGACAGAGA	0.428000													46	108					0	0	0.003610	0	0
ZNF479	90827	broad.mit.edu	37	7	57200000	57200000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:57200000C>T	ENST00000331162.4	-	2	302	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACCATTTCTCGGCTTCCAGG	0.552000													16	45					0	0	0.004990	0	0
RBM23	55147	broad.mit.edu	37	14	23380554	23380554	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23380554G>A	ENST00000359890.3	-	2	244	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	RBM23_ENST00000399922.2_Missense_Mutation_p.P17S|RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.P17S	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	17					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TTTTTATAGGGAGCTTCCAGC	0.368000													52	131					0	0	0.003610	0	0
AP1S3	130340	broad.mit.edu	37	2	224642566	224642566	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:224642566G>A	ENST00000443700.1	-	2	175	c.24C>T	c.(22-24)ttC>ttT	p.F8F	AP1S3_ENST00000423110.1_Silent_p.F8F|AP1S3_ENST00000396654.2_Silent_p.F8F|AP1S3_ENST00000446015.2_Silent_p.F8F|AP1S3_ENST00000396653.2_Silent_p.F8F|AP1S3_ENST00000409375.1_Silent_p.F8F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	8					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	p.F8L(1)		NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGTCGACTGAAGAGCAATA	0.408000													12	49					0	0	0.002450	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721637	18721637	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:18721637C>T	ENST00000380548.4	+	15	2319	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	ADAMTSL1_ENST00000276935.6_Silent_p.S660S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	660	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCTGAAGTCCTGCAATTTGG	0.607000													22	27					0	0	0.001882	0	0
CPT1A	1374	broad.mit.edu	37	11	68548126	68548126	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:68548126G>A	ENST00000265641.5	-	12	1594	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	CPT1A_ENST00000540367.1_Silent_p.I480I|CPT1A_ENST00000539743.1_Silent_p.I480I|CPT1A_ENST00000376618.2_Silent_p.I480I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	480					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTGGGCCACGATCGGCGCAT	0.512000													18	36					0	0	0.008871	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100001349	100001349	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100001349C>T	ENST00000398027.2	-	15	1625	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E340K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E461K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E340K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	460							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					tccaactcttcctctttctcc	0.408000													7	35					0	0	0.001984	0	0
KCNK9	51305	broad.mit.edu	37	8	140630620	140630620	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:140630620C>T	ENST00000520439.1	-	2	1069	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E336K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	336						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTGAGATCTCCTCGATCTTG	0.552000													44	67					0	0	0.003214	0	0
ANK1	286	broad.mit.edu	37	8	41566302	41566302	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:41566302C>T	ENST00000396942.1	-	17	2075	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	ANK1_ENST00000289734.7_Silent_p.G664G|ANK1_ENST00000265709.8_Silent_p.G697G|ANK1_ENST00000352337.4_Silent_p.G664G|ANK1_ENST00000347528.4_Silent_p.G664G|ANK1_ENST00000379758.2_Silent_p.G664G|ANK1_ENST00000396945.1_Silent_p.G664G			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	664	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTACCTTGTTCCCCAGGTTGC	0.567000													38	90					0	0	0.009718	0	0
WDR49	151790	broad.mit.edu	37	3	167322214	167322214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:167322214G>A	ENST00000453925.2	-	2	171	c.137C>T	c.(136-138)aCc>aTc	p.T46I	WDR49_ENST00000479765.1_Missense_Mutation_p.T334I|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	168										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGTATTGCTGGTTGTACTGGA	0.338000													10	19					0	0	0.006214	0	0
FGR	2268	broad.mit.edu	37	1	27942117	27942117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:27942117C>T	ENST00000374005.3	-	9	1134	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FGR_ENST00000399173.1_Nonsense_Mutation_p.W282*|FGR_ENST00000374004.1_Nonsense_Mutation_p.W282*|FGR_ENST00000545953.1_Nonsense_Mutation_p.W216*	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	282	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTGCCGTTCCACGTGCCTG	0.687000													10	8					0	0	0.000978	0	0
TIMP3	7078	broad.mit.edu	37	22	33253286	33253286	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:33253286A>T	ENST00000266085.6	+	3	556	c.255A>T	c.(253-255)gaA>gaT	p.E85D	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	85	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TCCATACGGAAGCTTCCGAGA	0.517000													23	67					0	0	0.005443	0	0
TENM4	26011	broad.mit.edu	37	11	78383099	78383099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:78383099C>T	ENST00000278550.7	-	31	6234	c.5772G>A	c.(5770-5772)tgG>tgA	p.W1924*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATGTGTAGCTCCATGTCTTCC	0.547000													14	15					0	0	0.003163	0	0
OR11H12	440153	broad.mit.edu	37	14	19378561	19378561	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:19378561C>T	ENST00000550708.1	+	1	1040	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGGAAGTTCCAACATAATC	0.358000													55	102					0	0	0.003610	0	0
CD200R1	131450	broad.mit.edu	37	3	112648329	112648329	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:112648329C>T	ENST00000471858.1	-	3	391	c.159G>A	c.(157-159)atG>atA	p.M53I	CD200R1_ENST00000295863.4_Missense_Mutation_p.M31I|CD200R1_ENST00000490004.1_Missense_Mutation_p.M53I|CD200R1_ENST00000440122.2_Missense_Mutation_p.M76I|CD200R1_ENST00000308611.3_Missense_Mutation_p.M76I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	53	Ig-like V-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						CATTTGTAGCCATCTTTACAG	0.373000													21	38					0	0	0.001882	0	0
ENTPD3	956	broad.mit.edu	37	3	40457388	40457388	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40457388G>T	ENST00000301825.3	+	7	773	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	ENTPD3_ENST00000456402.1_Missense_Mutation_p.D219Y|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.D219Y	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	219						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GGGTGCCCTGGACTTAGGTGG	0.537000													10	36					6.40141e-05	7.36174e-05	0.000978	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818931	159818931	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:159818931G>A	ENST00000497452.1	-	0	517																											ACCGGGTGGAGAATGAGGCAG	0.483000													39	114					0	0	0.006999	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327652	49327652	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49327652G>A	ENST00000559471.1	-	3	670	c.407C>T	c.(406-408)gCt>gTt	p.A136V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.A136V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	136										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGTATTTGCAGCCTGAAAGGT	0.458000													10	58					0	0	0.008291	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210670	30210670	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:30210670G>A	ENST00000518096.1	+	0	1282																											GCACATCTCGGAGCAGTTCAC	0.577000													12	47					0	0	0.002450	0	0
WFDC6	140870	broad.mit.edu	37	20	44167995	44167995	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:44167995C>T	ENST00000600168.1	-	1	139	c.52G>A	c.(52-54)Gac>Aac	p.D18N	WFDC6_ENST00000372670.3_Missense_Mutation_p.D18N|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				TCCTGGATGTCCCCCAAAAGG	0.517000													48	77					0	0	0.003610	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797890	124797890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:124797890C>T	ENST00000334705.7	+	11	1117	c.871C>T	c.(871-873)Cga>Tga	p.R291*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.R291*	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	291										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AATGTATTGCCGATTGGGCTT	0.308000													19	51					0	0	0.003330	0	0
HTT	3064	broad.mit.edu	37	4	3109019	3109019	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:3109019C>T	ENST00000355072.5	+	6	761	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	206					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGCCTTACCTGGTGAACCT	0.473000													11	51					0	0	0.001368	0	0
TIAM1	7074	broad.mit.edu	37	21	32567601	32567601	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:32567601G>A	ENST00000286827.3	-	14	2985	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	TIAM1_ENST00000541036.1_Silent_p.I778I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	838					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTTTGGACAGATTTCAATTT	0.303000													12	31					0	0	0.001855	0	0
TNR	7143	broad.mit.edu	37	1	175306816	175306816	+	Splice_Site	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:175306816C>G	ENST00000367674.1	-	19	4091		c.e19-1		TNR_ENST00000263525.2_Splice_Site	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R						axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCCGGCCTCCTGCAAGGAAA	0.502000													6	18					0	0	0.001168	0	0
PPID	5481	broad.mit.edu	37	4	159638288	159638288	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:159638288A>G	ENST00000307720.3	-	4	505	c.398T>C	c.(397-399)tTt>tCt	p.F133S		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	133	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TGTTGTGATAAAAAACTGAGA	0.403000													17	34					0	0	0.004990	0	0
NCOR1	9611	broad.mit.edu	37	17	16068451	16068451	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:16068451C>T	ENST00000268712.3	-	5	717	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	NCOR1_ENST00000395848.1_Missense_Mutation_p.E45K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E154K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	154	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATGGAGCTTCATGTTTGCCT	0.388000													18	162					0	0	0.002299	0	0
PTER	9317	broad.mit.edu	37	10	16526508	16526508	+	Missense_Mutation	SNP	C	C	T	rs141767754	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:16526508C>T	ENST00000378000.1	+	3	371	c.125C>T	c.(124-126)cCg>cTg	p.P42L	PTER_ENST00000423462.2_Missense_Mutation_p.P42L|PTER_ENST00000298942.3_Missense_Mutation_p.P42L|PTER_ENST00000535784.2_Missense_Mutation_p.P42L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	42					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CCACCTCCCCCGTGCCAGGAA	0.453000													18	65					0	0	0.006122	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481409	140481409	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140481409C>T	ENST00000231130.2	+	1	1176	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		392	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCTTCTTCCTGAAACCAT	0.468000													19	50					0	0	0.008871	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002469	52002469	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52002469G>A	ENST00000291707.3	-	4	1145	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P246S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	364					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCTGAGGAGGATCTGGAACA	0.562000													17	45					0	0	0.008871	0	0
SLC18A1	6570	broad.mit.edu	37	8	20028949	20028949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:20028949G>A	ENST00000440926.1	-	8	1251	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	SLC18A1_ENST00000276373.5_Missense_Mutation_p.L261F|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L261F|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L261F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L261F|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L261F|SLC18A1_ENST00000524272.1_5'UTR	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	261					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GCCAGGATGAGGAAGGGTGCA	0.532000													21	101					0	0	0.003330	0	0
FCGBP	8857	broad.mit.edu	37	19	40434209	40434209	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:40434209C>T	ENST00000221347.6	-	2	67	c.60G>A	c.(58-60)ttG>ttA	p.L20L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	20						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCCTGGGTCAATCCTGGTT	0.507000													10	40					0	0	0.008291	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848181	45848181	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:45848181G>A	ENST00000409454.1	+	0	1176																											TGTACAGTTTGAAATACTATT	0.318000													13	18					0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126239997	126239997	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:126239997C>T	ENST00000394329.3	+	1	2444	c.2431C>T	c.(2431-2433)Cat>Tat	p.H811Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	811	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGGGATATCATGTGGGTAG	0.443000													15	76					0	0	0.006122	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771437	127771437	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:127771437C>T	ENST00000483725.3	-	3	532	c.196G>A	c.(196-198)Gat>Aat	p.D66N	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	66							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TGGTAAAGATCAATGATCTTA	0.353000													16	36					0	0	0.003163	0	0
BNC1	646	broad.mit.edu	37	15	83933168	83933168	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:83933168C>T	ENST00000345382.2	-	4	920	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	BNC1_ENST00000569704.1_Missense_Mutation_p.E272K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	279					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCATGGACTTCCTGTTTGGGG	0.478000													84	46					0	0	0.003610	0	0
CDH10	1008	broad.mit.edu	37	5	24491745	24491745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:24491745G>A	ENST00000264463.4	-	11	2323	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	606	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGGCCGGCAGGGAGGAGCAGG	0.527000										HNSCC(23;0.051)			24	73					0	0	0.004656	0	0
MYLK4	340156	broad.mit.edu	37	6	2675297	2675297	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:2675297G>A	ENST00000274643.7	-	11	1445	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	MYLK4_ENST00000268446.5_Missense_Mutation_p.S368F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	368							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATTGAGTCTGGAGTGGAGCTT	0.473000													40	92					0	0	0.003610	0	0
DVL1	1855	broad.mit.edu	37	1	1273686	1273686	+	Silent	SNP	G	G	A	rs149343423	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1273686G>A	ENST00000378888.5	-	13	1754	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	DVL1_ENST00000378891.5_Silent_p.S465S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	490	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCACTGCTCGGAGAAGGTGA	0.672000													15	22					0	0	0.007413	0	0
PLCE1	51196	broad.mit.edu	37	10	96081675	96081675	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96081675C>T	ENST00000260766.3	+	30	6994	c.6360C>T	c.(6358-6360)aaC>aaT	p.N2120N	PLCE1_ENST00000371380.2_Silent_p.N2120N|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Silent_p.N1812N|PLCE1_ENST00000371385.3_Silent_p.N1812N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2120					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGAGAAAAACATTGTTCAAG	0.358000													10	10					0	0	0.006214	0	0
SDPR	8436	broad.mit.edu	37	2	192711221	192711221	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:192711221T>G	ENST00000304141.4	-	1	760	c.431A>C	c.(430-432)aAc>aCc	p.N144T		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	144						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGCGTGGTTGTTCTCCAGCCG	0.597000													16	23					0	0	0.004007	0	0
IGSF21	84966	broad.mit.edu	37	1	18691906	18691906	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:18691906G>A	ENST00000251296.1	+	6	1113	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	244						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACCCTACACGGAGCGCCCCTC	0.637000													30	80					0	0	0.009535	0	0
LOC401127	401127	broad.mit.edu	37	4	39482269	39482269	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:39482269C>T	ENST00000513652.1	+	0	395																											GAAATTCAGCCCGAATGGAGA	0.493000													29	28					0	0	0.002445	0	0
FAM213A	84293	broad.mit.edu	37	10	82187231	82187231	+	Silent	SNP	C	C	T	rs150904688	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:82187231C>T	ENST00000372181.1	+	4	1025	c.555C>T	c.(553-555)ttC>ttT	p.F185F	FAM213A_ENST00000372187.5_Silent_p.F185F|FAM213A_ENST00000372185.1_Silent_p.F174F|FAM213A_ENST00000372188.1_Silent_p.F185F	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	185						extracellular region											GGGGAGTTTTCGTGGTGGGAT	0.522000													16	28					0	0	0.007413	0	0
UNC45A	55898	broad.mit.edu	37	15	91496169	91496169	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:91496169C>T	ENST00000394275.2	+	21	3104	c.2269C>T	c.(2269-2271)Ctg>Ttg	p.L757L	AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Silent_p.L772L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	772					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCAGAAGATCCTGAAGGAGAA	0.522000													284	247					0	0	0.003610	0	0
NAV1	89796	broad.mit.edu	37	1	201751934	201751934	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:201751934C>T	ENST00000367296.4	+	6	2714	c.2294C>T	c.(2293-2295)cCc>cTc	p.P765L	NAV1_ENST00000367302.1_Missense_Mutation_p.P778L|NAV1_ENST00000295624.6_Missense_Mutation_p.P765L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.P765L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.P765L|NAV1_ENST00000367295.1_Missense_Mutation_p.P374L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	765					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAAAGTACTCCCAAGAACCAA	0.557000													7	37					0	0	0.001984	0	0
PCK1	5105	broad.mit.edu	37	20	56140833	56140833	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56140833C>T	ENST00000319441.4	+	10	2006	c.1842C>T	c.(1840-1842)gcC>gcT	p.A614A	PCK1_ENST00000543666.1_Silent_p.A297A	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	614					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGATCCTTGCCTTGAAGCAAA	0.478000													12	39					0	0	0.001368	0	0
FYCO1	79443	broad.mit.edu	37	3	46008470	46008470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46008470G>A	ENST00000296137.2	-	8	2561	c.2356C>T	c.(2356-2358)Caa>Taa	p.Q786*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.Q786*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	786					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCAGCCGTTGGACCTCCCCC	0.642000													23	42					0	0	0.003954	0	0
IGSF10	285313	broad.mit.edu	37	3	151176400	151176400	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:151176400C>G	ENST00000282466.3	-	1	97	c.98G>C	c.(97-99)tGt>tCt	p.C33S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	33	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAACAGGCACAGCGGCGAGG	0.557000													13	37					0	0	0.003163	0	0
PRKY	5616	broad.mit.edu	37	Y	7224202	7224202	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrY:7224202C>T	ENST00000528056.1	+	0	1087					NR_028062.1															large_intestine(2)|lung(3)|skin(1)	6						GATGACAACCCGTTTGGCATT	0.373000													6	5					0	0	0.001984	0	0
SYNRG	11276	broad.mit.edu	37	17	35928907	35928907	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:35928907G>A	ENST00000339208.6	-	11	1607	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	SYNRG_ENST00000346661.4_Silent_p.S489S|SYNRG_ENST00000394378.2_Silent_p.S411S|SYNRG_ENST00000345615.4_Silent_p.S411S|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.S411S|SYNRG_ENST00000591288.1_Silent_p.S328S|SYNRG_ENST00000585472.1_Silent_p.S410S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	489					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCATGCTGGGAGTTACTTG	0.368000													12	63					0	0	0.000978	0	0
MYH2	4620	broad.mit.edu	37	17	10441041	10441041	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10441041C>T	ENST00000245503.5	-	15	1912	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	MYH2_ENST00000397183.2_Missense_Mutation_p.E510K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E510K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	510	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AACGTCCACTCGATGCCTTCC	0.493000													41	62					0	0	0.008740	0	0
APBB3	10307	broad.mit.edu	37	5	139941205	139941205	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139941205G>A	ENST00000357560.4	-	8	1157	c.714C>T	c.(712-714)gcC>gcT	p.A238A	APBB3_ENST00000354402.5_Silent_p.A245A|APBB3_ENST00000511201.2_Silent_p.A236A|APBB3_ENST00000356738.2_Silent_p.A243A|APBB3_ENST00000508496.2_Silent_p.A15A|APBB3_ENST00000412920.3_Silent_p.A236A|APBB3_ENST00000358580.5_Silent_p.A238A	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	238	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGCAATGGCCTTGGCAG	0.547000													32	102					0	0	0.009535	0	0
SDPR	8436	broad.mit.edu	37	2	192701240	192701240	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:192701240C>T	ENST00000304141.4	-	2	1016	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	229						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTTTTATTTTCTCTGCCCTAC	0.493000													72	112					0	0	0.003610	0	0
ZNF433	163059	broad.mit.edu	37	19	12126465	12126465	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:12126465G>A	ENST00000419886.2	-	5	1403	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	ZNF433_ENST00000344980.6_Missense_Mutation_p.S406F|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GAAGGAACTGGAAGAATTAAA	0.408000													30	60					0	0	0.008361	0	0
TRPC7	57113	broad.mit.edu	37	5	135693021	135693021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135693021C>T	ENST00000513104.1	-	2	337	c.55G>A	c.(55-57)Gag>Aag	p.E19K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E19K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E19K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	19					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCCCTTCTCCCTCAGCGTT	0.597000													27	56					0	0	0.005443	0	0
SPON1	10418	broad.mit.edu	37	11	14157038	14157038	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:14157038G>A	ENST00000310358.7	+	0	1284							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAATATGGAGGATATGCCAGC	0.478000													41	73					0	0	0.007835	0	0
CEP290	80184	broad.mit.edu	37	12	88472896	88472896	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:88472896G>A	ENST00000552810.1	-	39	5680	c.5337C>T	c.(5335-5337)atC>atT	p.I1779I	CEP290_ENST00000547691.2_Silent_p.I839I|CEP290_ENST00000309041.7_Silent_p.I1781I|CEP290_ENST00000397838.3_Silent_p.I839I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1779					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCGATCAACGATTTGTTGAA	0.378000													12	11					0	0	0.001855	0	0
USP1	7398	broad.mit.edu	37	1	62910551	62910551	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62910551G>A	ENST00000339950.4	+	6	1515	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	USP1_ENST00000371146.1_Missense_Mutation_p.E234K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	234					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TACTAAGGTAGAAGAAATACC	0.353000													34	55					0	0	0.004289	0	0
BMP6	654	broad.mit.edu	37	6	7845444	7845444	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7845444C>T	ENST00000283147.6	+	2	895	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	246					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					ATCCCAGATTCCTGAGGGTGA	0.433000													32	81					0	0	0.002836	0	0
MED13L	23389	broad.mit.edu	37	12	116429468	116429468	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:116429468G>A	ENST00000281928.3	-	17	3497	c.3291C>T	c.(3289-3291)ccC>ccT	p.P1097P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1097					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATGGTGGCGGGCTCCACAG	0.522000													14	19					0	0	0.001855	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947248	139947248	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139947248G>A	ENST00000514199.1	+	2	2180	c.494G>A	c.(493-495)gGg>gAg	p.G165E	SLC35A4_ENST00000323146.3_Missense_Mutation_p.G165E|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	165	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTTCCCGGGAACACCCTT	0.647000													16	32					0	0	0.004007	0	0
ZNF157	7712	broad.mit.edu	37	X	47272784	47272784	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:47272784G>A	ENST00000377073.3	+	4	1398	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	438					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACTCACACAGGAGAGAAACC	0.428000													13	2					0	0	0.001855	0	0
TECRL	253017	broad.mit.edu	37	4	65147237	65147237	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:65147237G>A	ENST00000381210.3	-	10	983	c.873C>T	c.(871-873)ttC>ttT	p.F291F	TECRL_ENST00000507440.1_Silent_p.F291F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	291					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACATCCATGTGAAGGGGTTAT	0.338000													16	22					0	0	0.006122	0	0
TPO	7173	broad.mit.edu	37	2	1460037	1460037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:1460037C>T	ENST00000345913.4	+	7	893	c.802C>T	c.(802-804)Cca>Tca	p.P268S	TPO_ENST00000346956.3_Missense_Mutation_p.P268S|TPO_ENST00000337415.3_Missense_Mutation_p.P268S|TPO_ENST00000349624.3_Missense_Mutation_p.P268S|TPO_ENST00000382198.1_Missense_Mutation_p.P268S|TPO_ENST00000329066.4_Missense_Mutation_p.P268S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.P268S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	268					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.P268A(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAACCAAAACCCATGTTTTCC	0.418000													19	32					0	0	0.008871	0	0
ZNF251	90987	broad.mit.edu	37	8	145948186	145948186	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:145948186G>A	ENST00000292562.7	-	5	1134	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGTGAATTCTCCGA	0.433000													15	41					0	0	0.004007	0	0
MADD	8567	broad.mit.edu	37	11	47306552	47306552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47306552C>T	ENST00000342922.4	+	13	2575	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	MADD_ENST00000349238.3_Missense_Mutation_p.P740S|MADD_ENST00000395336.3_Missense_Mutation_p.P740S|MADD_ENST00000407859.3_Missense_Mutation_p.P740S|MADD_ENST00000395344.3_Missense_Mutation_p.P740S|MADD_ENST00000406482.1_Missense_Mutation_p.P740S|MADD_ENST00000311027.5_Missense_Mutation_p.P740S|MADD_ENST00000402799.1_Missense_Mutation_p.P740S|MADD_ENST00000402192.2_Missense_Mutation_p.P740S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	740					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.P740S(1)|p.P740F(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAGCCCCTCCCTTCCGTGCC	0.537000													33	65					0	0	0.002096	0	0
DOK7	285489	broad.mit.edu	37	4	3478185	3478185	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:3478185G>A	ENST00000340083.5	+	4	513	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	DOK7_ENST00000389653.2_Missense_Mutation_p.G150R|DOK7_ENST00000507039.1_Missense_Mutation_p.G150R	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	150	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCTGTCACGGGGCAGTGGAA	0.627000													13	66					0	0	0.003163	0	0
C2orf53	339779	broad.mit.edu	37	2	27360391	27360391	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27360391C>T	ENST00000335524.3	-	3	1332	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	269										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCAGTCCTGTACCTGG	0.667000													23	33					0	0	0.002780	0	0
TRIM54	57159	broad.mit.edu	37	2	27505700	27505700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27505700C>T	ENST00000296098.4	+	1	371	c.101C>T	c.(100-102)tCc>tTc	p.S34F	TRIM54_ENST00000380075.2_Missense_Mutation_p.S34F	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	34					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATGTTCTCCAAACCAGTG	0.577000													70	158					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57767358	57767358	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:57767358G>A	ENST00000371030.2	+	1	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	428						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAACGTGCGGCCCCGGAAGA	0.657000													7	25					0	0	0.003080	0	0
GJA10	84694	broad.mit.edu	37	6	90604323	90604323	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:90604323G>A	ENST00000369352.1	+	1	136	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	46					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGATGTCTGGGATGATGAACA	0.493000													20	40					0	0	0.008871	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925401	218925401	+	RNA	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:218925401C>G	ENST00000439871.1	-	0	979					NR_002712.1																						CCCACATGGTCCAGTGCTTCT	0.552000													15	48					0	0	0.004007	0	0
CYP39A1	51302	broad.mit.edu	37	6	46604199	46604199	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46604199T>G	ENST00000275016.2	-	5	862	c.659A>C	c.(658-660)aAg>aCg	p.K220T		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	220					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAGGAACCACTTTTTGGATTT	0.313000													28	29					0	0	0.002445	0	0
NDST4	64579	broad.mit.edu	37	4	115754843	115754843	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:115754843C>T	ENST00000264363.2	-	12	2993	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	772	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGGGTCAGATCTCAGCTGCTG	0.383000													6	26					0	0	0.003080	0	0
GNL1	2794	broad.mit.edu	37	6	30521151	30521151	+	Missense_Mutation	SNP	G	G	A	rs139361425	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30521151G>A	ENST00000376621.3	-	6	1754	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	262					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGTGGGGTGCGGGGGTCCCGA	0.567000													51	116					0	0	0.003610	0	0
CWH43	80157	broad.mit.edu	37	4	49005875	49005875	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:49005875G>A	ENST00000226432.4	+	7	1109	c.926G>A	c.(925-927)gGg>gAg	p.G309E	CWH43_ENST00000513409.1_Missense_Mutation_p.G282E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	309					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATTAACTCAGGGACAAACCCT	0.463000													8	46					0	0	0.003080	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215791	140215791	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140215791C>T	ENST00000525929.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA7_ENST00000378125.3_Missense_Mutation_p.S608L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGTTG	0.637000													26	53					0	0	0.003330	0	0
RPL32	6161	broad.mit.edu	37	3	12881705	12881705	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:12881705T>C	ENST00000429711.2	-	2	131	c.32A>G	c.(31-33)aAg>aGg	p.K11R	RPL32_ENST00000435983.1_Missense_Mutation_p.K11R|RPL32_ENST00000396953.2_Missense_Mutation_p.K11R|RPL32_ENST00000396957.1_Missense_Mutation_p.K11R|RPL32_ENST00000273223.6_Missense_Mutation_p.K11R	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	11					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TTTGACGATCTTGGGCTTCAC	0.537000													60	135					0	0	0.003610	0	0
GPATCH2	55105	broad.mit.edu	37	1	217784405	217784405	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:217784405C>T	ENST00000366935.3	-	4	954	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	GPATCH2_ENST00000366934.3_Missense_Mutation_p.E282K	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	282						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCACTCTGTTCATCATCACCT	0.433000													28	42					0	0	0.007291	0	0
GLI2	2736	broad.mit.edu	37	2	121745958	121745958	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:121745958C>T	ENST00000452319.1	+	14	2528	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	GLI2_ENST00000361492.4_Missense_Mutation_p.S823F|GLI2_ENST00000314490.11_Missense_Mutation_p.S495F			P10070	GLI2_HUMAN	GLI family zinc finger 2	823	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCGCCGCTCCTCCGGCATC	0.721000													3	5					0	0	0.004672	0	0
LIFR	3977	broad.mit.edu	37	5	38506159	38506159	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:38506159A>G	ENST00000263409.4	-	9	1301	c.1139T>C	c.(1138-1140)gTt>gCt	p.V380A	LIFR_ENST00000453190.2_Missense_Mutation_p.V380A|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	380	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTAAGTCTAACATATTTTCC	0.274000			T	PLAG1	salivary adenoma								12	35					0	0	0.000978	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001774	18001774	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18001774G>A	ENST00000222248.3	+	14	2078	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	577					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGCCCCCAAGGAAGAAGTGG	0.602000													24	69					0	0	0.003954	0	0
TRBV2	28620	broad.mit.edu	37	7	142001050	142001050	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142001050C>T	ENST00000455382.2	+	0	216																											CATCTCTAATCACTTATACTT	0.433000													18	13					0	0	0.006122	0	0
TRIM10	10107	broad.mit.edu	37	6	30121774	30121774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30121774C>T	ENST00000449742.2	-	7	1493	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	473	B30.2/SPRY.					cytoplasm	zinc ion binding	p.R473Q(1)		ovary(1)	1						ACTGGACCCTCGGCCCCAGAG	0.547000													22	59					0	0	0.002780	0	0
SH2D3C	10044	broad.mit.edu	37	9	130513528	130513528	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:130513528C>T	ENST00000314830.8	-	4	720	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SH2D3C_ENST00000373276.3_Missense_Mutation_p.E135K|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E46K|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E43K|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E45K	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	203					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTCCAATTCCTTGTGGAGT	0.542000													32	46					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179584810	179584810	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179584810G>A	ENST00000589042.1	-	81	23783	c.23559C>T	c.(23557-23559)ctC>ctT	p.L7853L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L6609L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L7536L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7536	Ig-like 61.						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)			TCCCCAGCTGGAGGGTTGCAA	0.418000													22	57					0	0	0.001882	0	0
EFR3A	23167	broad.mit.edu	37	8	132991232	132991232	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:132991232C>T	ENST00000254624.5	+	13	1690	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	EFR3A_ENST00000519656.1_Missense_Mutation_p.R453C|EFR3A_ENST00000334503.4_Missense_Mutation_p.R489C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	489						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTCATGGATCGTCATGACAA	0.393000													43	108					0	0	0.003214	0	0
CREB3L4	148327	broad.mit.edu	37	1	153945263	153945263	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153945263T>C	ENST00000368607.3	+	5	853	c.587T>C	c.(586-588)cTg>cCg	p.L196P	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L196P|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L196P|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L49P|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L176P|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L196P	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	196					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	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)			GAGAAGCGTCTGCTGGGGCAG	0.597000													9	5					0	0	0.004482	0	0
MYH1	4619	broad.mit.edu	37	17	10398572	10398572	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10398572C>T	ENST00000226207.5	-	36	5326	c.5232G>A	c.(5230-5232)gaG>gaA	p.E1744E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1744						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCTTCCATCTCTCCCTGGA	0.443000													54	70					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13920635	13920635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13920635C>T	ENST00000265104.4	-	6	856	c.752G>A	c.(751-753)gGa>gAa	p.G251E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	251	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTATTTTTCCCAAAGTCTC	0.393000									Kartagener syndrome				37	84					0	0	0.006230	0	0
FGA	2243	broad.mit.edu	37	4	155507418	155507418	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155507418G>A	ENST00000302053.3	-	5	1241	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	FGA_ENST00000403106.3_Missense_Mutation_p.S388F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	388					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCAGATTCAGAGTGCCATTG	0.537000													23	57					0	0	0.002299	0	0
TRPM7	54822	broad.mit.edu	37	15	50867312	50867312	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:50867312G>A	ENST00000313478.7	-	34	5037	c.4756C>T	c.(4756-4758)Cgt>Tgt	p.R1586C	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.R1585C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1586					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)		TCTTCCAAACGATACACTGTG	0.363000													12	31					0	0	0.001855	0	0
ZPBP	11055	broad.mit.edu	37	7	49977183	49977183	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:49977183C>T	ENST00000046087.2	-	8	1066	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZPBP_ENST00000419417.1_Missense_Mutation_p.G332R|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	333					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CAATGAATTCCATCACGGGGG	0.353000													26	84					0	0	0.002836	0	0
IKZF1	10320	broad.mit.edu	37	7	50450384	50450384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:50450384G>A	ENST00000331340.3	+	5	723	c.568G>A	c.(568-570)Ggc>Agc	p.G190S	IKZF1_ENST00000359197.5_Missense_Mutation_p.G190S|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G190S|IKZF1_ENST00000343574.5_Missense_Mutation_p.G103S|IKZF1_ENST00000440768.2_Missense_Mutation_p.G190S|IKZF1_ENST00000439701.1_Missense_Mutation_p.G190S|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.G103S	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	190	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCCCTCACTGGCCACCTGAG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	11					0	0	0.001168	0	0
PRSS42	339906	broad.mit.edu	37	3	46873503	46873503	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46873503G>A	ENST00000429665.1	-	4	654	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	PRSS42_ENST00000447340.1_Intron	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	219	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						ACATCCTGAAGAATTTCTGAT	0.413000													14	32					0	0	0.002450	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672311	75672311	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:75672311G>A	ENST00000370855.5	-	24	2254	c.2141C>T	c.(2140-2142)cCc>cTc	p.P714L	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P584L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	714						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTGCTTCTGGGGAACTAGTTG	0.373000													33	68					0	0	0.004878	0	0
OR5H14	403273	broad.mit.edu	37	3	97868450	97868450	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:97868450C>T	ENST00000437310.1	+	1	281	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTTTGTTATCATCCTCAGTG	0.398000													85	148					0	0	0.003610	0	0
COL1A1	1277	broad.mit.edu	37	17	48263204	48263204	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:48263204C>T	ENST00000225964.5	-	50	4301	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1395	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.E1395*(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATCTCGATCTCGTTGGAGCCC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						19	34					0	0	0.010504	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214955	134214955	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:134214955C>T	ENST00000535456.2	+	4	569	c.381C>T	c.(379-381)atC>atT	p.I127I	GLB1L2_ENST00000339772.7_Silent_p.I127I|GLB1L2_ENST00000389881.3_Silent_p.I127I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662000													16	18					0	0	0.004990	0	0
MAP6	4135	broad.mit.edu	37	11	75319327	75319327	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:75319327G>A	ENST00000434603.2	-	2	1010	c.946C>T	c.(946-948)Cca>Tca	p.P316S	MAP6_ENST00000304771.3_Missense_Mutation_p.P316S|MAP6_ENST00000526740.1_5'UTR	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	316	Calmodulin-binding (By similarity).|Mn 3.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCCTTTATTGGTTTCACAGGC	0.483000													30	44					0	0	0.003755	0	0
RDH12	145226	broad.mit.edu	37	14	68191872	68191872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:68191872G>A	ENST00000551171.1	+	5	568	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	RDH12_ENST00000539142.1_Missense_Mutation_p.E82K|RDH12_ENST00000267502.3_Missense_Mutation_p.E82K	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	82					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGCTGCCAGTGAAATCCGAGT	0.512000													45	126					0	0	0.003610	0	0
DNHD1	144132	broad.mit.edu	37	11	6589016	6589016	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6589016C>T	ENST00000254579.6	+	36	12841	c.12277C>T	c.(12277-12279)Cca>Tca	p.P4093S	DNHD1_ENST00000527990.2_Missense_Mutation_p.P4093S	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4093					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GATCTTGTTGCCACCGCCTGG	0.552000													17	45					0	0	0.006122	0	0
G6PC	2538	broad.mit.edu	37	17	41063392	41063392	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:41063392C>T	ENST00000253801.2	+	5	1102	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	341			I -> N (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCAGTGTCATCCCCTACTGCC	0.547000													20	97					0	0	0.010504	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514275	47514275	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47514275A>C	ENST00000371901.3	+	10	1496	c.1246A>C	c.(1246-1248)Aac>Cac	p.N416H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.N415H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	416						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTTCACCACAACCCTGCTGT	0.433000													74	180					0	0	0.003610	0	0
CASP14	23581	broad.mit.edu	37	19	15164410	15164410	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15164410G>A	ENST00000427043.3	+	3	453	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CASP14_ENST00000221740.1_Missense_Mutation_p.E49K	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	49					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GCTGAGATTCGAAAGCACCAT	0.552000													25	76					0	0	0.003954	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795631	149795631	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:149795631G>A	ENST00000389942.5	-	2	296	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.R17W|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.R17W|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.R17W|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.R17W			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	17						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		ACATCCTCCCGGTCATAGCCC	0.667000													6	12					0	0	0.001984	0	0
SELE	6401	broad.mit.edu	37	1	169694893	169694893	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:169694893T>C	ENST00000333360.7	-	13	1964	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SELE_ENST00000367776.1_Missense_Mutation_p.I546V|SELE_ENST00000367774.1_Missense_Mutation_p.I483V|SELE_ENST00000367779.4_Missense_Mutation_p.I483V|SELE_ENST00000367782.4_Missense_Mutation_p.I546V|SELE_ENST00000367780.4_Missense_Mutation_p.I484V|SELE_ENST00000367781.4_Missense_Mutation_p.I546V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.I546V|SELE_ENST00000367775.1_Missense_Mutation_p.I484V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	609					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACTTAAAGGATGTAAGAAGGC	0.403000													19	32					0	0	0.010504	0	0
GPR158	57512	broad.mit.edu	37	10	25701188	25701188	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:25701188C>T	ENST00000376351.3	+	4	1480	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	374						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAAGGGGTCCGGATCAGCAT	0.468000													35	91					0	0	0.004289	0	0
POLR1A	25885	broad.mit.edu	37	2	86327194	86327194	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:86327194G>A	ENST00000263857.6	-	2	557	c.179C>T	c.(178-180)tCc>tTc	p.S60F	POLR1A_ENST00000409681.1_Missense_Mutation_p.S60F			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	60					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACCTCTTTGGAATCTGCAGG	0.527000													17	45					0	0	0.004990	0	0
DNAH9	1770	broad.mit.edu	37	17	11726147	11726147	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11726147C>T	ENST00000262442.3	+	48	9110	c.9042C>T	c.(9040-9042)ttC>ttT	p.F3014F	DNAH9_ENST00000454412.2_Silent_p.F3014F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3014	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAGCAAATTCATGGCCTTTG	0.433000													28	52					0	0	0.002096	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425434	143425434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:143425434G>A	ENST00000524325.1	-	4	813	c.638C>T	c.(637-639)tCc>tTc	p.S213F	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S213F|TSNARE1_ENST00000307180.3_Missense_Mutation_p.S213F			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	213					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCTTGCCGGAACCAGGGCT	0.697000													11	30					0	0	0.001368	0	0
LPAL2	80350	broad.mit.edu	37	6	160903763	160903763	+	RNA	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:160903763T>G	ENST00000335388.5	-	0	1120					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGCAGGTTCTTCCTGTGACAG	0.473000													92	193					0	0	0.003610	0	0
IQSEC1	9922	broad.mit.edu	37	3	12954973	12954973	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:12954973G>A	ENST00000273221.4	-	9	2529	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	771					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGTAGTCCGAGTTTCTGGG	0.582000													9	22					0	0	0.004482	0	0
NPL	80896	broad.mit.edu	37	1	182794936	182794936	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:182794936C>G	ENST00000367554.3	+	10	1020	c.702C>G	c.(700-702)atC>atG	p.I234M	NPL_ENST00000367553.1_Missense_Mutation_p.I253M|NPL_ENST00000367555.1_Missense_Mutation_p.I209M|NPL_ENST00000367552.2_Missense_Mutation_p.I209M|NPL_ENST00000258317.2_Missense_Mutation_p.I253M|NPL_ENST00000463899.1_3'UTR	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	253					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGAGATTTATCAACTTTGTTG	0.343000													16	79					0	0	0.007413	0	0
LPHN3	23284	broad.mit.edu	37	4	62363054	62363054	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:62363054C>T	ENST00000512091.1	+	3	790	c.43C>T	c.(43-45)Cca>Tca	p.P15S	LPHN3_ENST00000508946.1_Missense_Mutation_p.P15S|LPHN3_ENST00000506700.1_Missense_Mutation_p.P15S|LPHN3_ENST00000504896.1_Missense_Mutation_p.P15S|LPHN3_ENST00000509896.1_Missense_Mutation_p.P15S|LPHN3_ENST00000506720.1_Missense_Mutation_p.P15S|LPHN3_ENST00000506746.1_Missense_Mutation_p.P15S|LPHN3_ENST00000514157.1_Missense_Mutation_p.P15S|LPHN3_ENST00000511324.1_Missense_Mutation_p.P15S|LPHN3_ENST00000514996.1_Missense_Mutation_p.P15S|LPHN3_ENST00000508693.1_Missense_Mutation_p.P15S|LPHN3_ENST00000514591.1_Missense_Mutation_p.P15S|LPHN3_ENST00000507164.1_Missense_Mutation_p.P15S|LPHN3_ENST00000545650.1_Missense_Mutation_p.P15S|LPHN3_ENST00000507625.1_Missense_Mutation_p.P15S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	15					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			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						GCTCTTAGCTCCAATAATTCA	0.378000													5	18					0	0	0.003080	0	0
RASGRF2	5924	broad.mit.edu	37	5	80497238	80497238	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80497238G>A	ENST00000265080.4	+	19	2950	c.2883G>A	c.(2881-2883)agG>agA	p.R961R		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	961					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCAAGAAAGGAAAGCCGCCG	0.413000													20	62					0	0	0.010504	0	0
LIPK	643414	broad.mit.edu	37	10	90497476	90497476	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:90497476C>T	ENST00000404190.1	+	6	754	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	252					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AAAGCTATTCCGTCGTATTTG	0.373000													54	94					0	0	0.003610	0	0
ZNF830	91603	broad.mit.edu	37	17	33289621	33289621	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33289621G>A	ENST00000361952.3	+	1	1073	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	346					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GAAAAAGGAAGAAGAGAATGC	0.423000													42	47					0	0	0.009718	0	0
DMBT1	1755	broad.mit.edu	37	10	124377568	124377568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:124377568G>A	ENST00000338354.3	+	38	4646	c.4540G>A	c.(4540-4542)Gga>Aga	p.G1514R	DMBT1_ENST00000368956.2_Missense_Mutation_p.G886R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G365R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1514R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1504R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G886R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1504R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1514	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTGGTGAATGGAGGTGACAG	0.547000													111	138					0	0	0.003610	0	0
NTRK1	4914	broad.mit.edu	37	1	156845919	156845919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156845919G>A	ENST00000368196.3	+	12	1651	c.1531G>A	c.(1531-1533)Ggg>Agg	p.G511R	NTRK1_ENST00000524377.1_Missense_Mutation_p.G517R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G514R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G481R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	517	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGGGAGCTGGGGGAGGGCGC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			12	56					0	0	0.001855	0	0
SPP2	6694	broad.mit.edu	37	2	234969093	234969093	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:234969093C>T	ENST00000168148.3	+	4	502	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SPP2_ENST00000373368.1_Silent_p.S138S	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	138					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCTGGTCCTCCTCCACGTCTG	0.567000													20	21					0	0	0.008871	0	0
SIK3	23387	broad.mit.edu	37	11	116827673	116827673	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:116827673C>T	ENST00000375300.1	-	2	386	c.381G>A	c.(379-381)agG>agA	p.R127R	SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.R69R|SIK3_ENST00000446921.2_Silent_p.R127R|SIK3_ENST00000292055.4_Silent_p.R69R			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	69	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCTGGTAGAGCCTGATGATAT	0.418000													86	347					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175171	207175171	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:207175171A>G	ENST00000374423.3	+	5	6305	c.5919A>G	c.(5917-5919)tcA>tcG	p.S1973S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1973							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTAAGTGTTCACGTTTACAGG	0.368000													16	34					0	0	0.004007	0	0
JARID2	3720	broad.mit.edu	37	6	15496631	15496631	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:15496631C>T	ENST00000341776.2	+	7	1419	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	JARID2_ENST00000397311.3_Missense_Mutation_p.S220F|JARID2_ENST00000541660.1_Missense_Mutation_p.S354F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	392					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAGGTGCTATCCCTCGGGGGG	0.572000													28	81					0	0	0.008361	0	0
SLIT1	6585	broad.mit.edu	37	10	98806450	98806450	+	Missense_Mutation	SNP	C	C	T	rs147332825		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:98806450C>T	ENST00000266058.4	-	18	2059	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R605Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	605					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CATGCCGCTCCGGATGGACTC	0.622000													9	16					0	0	0.006214	0	0
SCN10A	6336	broad.mit.edu	37	3	38770081	38770081	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38770081G>A	ENST00000449082.2	-	15	2591	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	864					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGGCATATGGATTTTTGGC	0.522000													13	52					0	0	0.001368	0	0
AKT1	207	broad.mit.edu	37	14	105246461	105246461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105246461G>A	ENST00000554581.1	-	2	1619	c.139C>T	c.(139-141)Caa>Taa	p.Q47*	AKT1_ENST00000554848.1_Nonsense_Mutation_p.Q47*|AKT1_ENST00000349310.3_Nonsense_Mutation_p.Q47*|AKT1_ENST00000407796.2_Nonsense_Mutation_p.Q47*|AKT1_ENST00000402615.2_Nonsense_Mutation_p.Q47*|AKT1_ENST00000555528.1_Nonsense_Mutation_p.Q47*			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	47	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GCCTCACGTTGGTCCACATCC	0.577000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								25	38					0	0	0.005443	0	0
GPLD1	2822	broad.mit.edu	37	6	24475374	24475374	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:24475374T>C	ENST00000230036.1	-	5	526	c.416A>G	c.(415-417)cAa>cGa	p.Q139R	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	139						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAGGAATCCTTGTTCAAGGCC	0.463000													35	81					0	0	0.006230	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672618	150672618	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:150672618C>T	ENST00000368993.2	-	14	1179	c.1074G>A	c.(1072-1074)cgG>cgA	p.R358R	HORMAD1_ENST00000368995.4_Silent_p.R278R|HORMAD1_ENST00000361824.2_Silent_p.R358R|HORMAD1_ENST00000322343.7_Silent_p.R351R			Q86X24	HORM1_HUMAN	HORMA domain containing 1	358					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GACTTCTCTTCCGATTTTCTT	0.318000													17	23					0	0	0.007413	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139855	40139855	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:40139855A>G	ENST00000325157.6	-	7	1903	c.1653T>C	c.(1651-1653)ctT>ctC	p.L551L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	551										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCTCCCTTAAAAGAACACTAA	0.423000													11	35					0	0	0.000978	0	0
MECOM	2122	broad.mit.edu	37	3	168845645	168845645	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:168845645G>A	ENST00000464456.1	-	4	1453	c.253C>T	c.(253-255)Cct>Tct	p.P85S	MECOM_ENST00000392736.3_Missense_Mutation_p.P85S|MECOM_ENST00000468789.1_Missense_Mutation_p.P85S|MECOM_ENST00000494292.1_Missense_Mutation_p.P273S|MECOM_ENST00000472280.1_Missense_Mutation_p.P85S|MECOM_ENST00000264674.3_Missense_Mutation_p.P149S|MECOM_ENST00000433243.2_Missense_Mutation_p.P85S|MECOM_ENST00000460814.1_Missense_Mutation_p.P85S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGCAAATCAGGAAAAACTTGG	0.383000													42	92					0	0	0.003610	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558910	140558910	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140558910T>C	ENST00000239444.2	+	1	1540	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		432	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCAGGCTGACAACACAT	0.532000													29	263					0	0	0.002096	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420379	69420379	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:69420379A>T	ENST00000357336.3	+	13	1550	c.1269A>T	c.(1267-1269)aaA>aaT	p.K423N		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	423										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGATTGGGAAAACGTATCCTC	0.348000													8	166					0	0	0.000978	0	0
CALCRL	10203	broad.mit.edu	37	2	188216651	188216651	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:188216651C>T	ENST00000409998.1	-	15	1947	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.G389E|CALCRL_ENST00000410068.1_Missense_Mutation_p.G389E|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	389						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCATACCTCTCCATTAAAGAA	0.279000													4	27					0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103236992	103236992	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:103236992C>T	ENST00000424685.2	-	25	3609	c.3450G>A	c.(3448-3450)gaG>gaA	p.E1150E	RELN_ENST00000428762.1_Silent_p.E1150E|RELN_ENST00000343529.5_Silent_p.E1150E			P78509	RELN_HUMAN	reelin	1150					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E1150D(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGACGCCCTCCTCTCTGCTGT	0.522000													174	65					0	0	0.003610	0	0
SSRP1	6749	broad.mit.edu	37	11	57099701	57099701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:57099701G>A	ENST00000278412.2	-	8	1192	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	309					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCATAGAGGGATCCTGACAT	0.527000													13	59					0	0	0.001368	0	0
LINC00174	285908	broad.mit.edu	37	7	65842553	65842553	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:65842553C>T	ENST00000421767.1	-	0	3179					NR_026873.1																						CGTGCTGTTCCTGGCGAGGCT	0.572000													4	13					0	0	0.000602	0	0
GPR111	222611	broad.mit.edu	37	6	47646750	47646750	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:47646750C>T	ENST00000398742.2	+	3	196	c.147C>T	c.(145-147)tcC>tcT	p.S49S	GPR111_ENST00000296862.1_Silent_p.S117S|GPR111_ENST00000507065.1_Silent_p.S49S			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	117					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGACTACTCCCAGTGTACTC	0.512000													29	44					0	0	0.006320	0	0
KLK1	3816	broad.mit.edu	37	19	51323241	51323241	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51323241C>T	ENST00000448701.2	-	5	1565	c.241G>A	c.(241-243)Gat>Aat	p.D81N	KLK1_ENST00000301420.2_Missense_Mutation_p.D183N			P06870	KLK1_HUMAN	kallikrein 1	183	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCACTCATCATTAGGCAGG	0.542000													19	31					0	0	0.010504	0	0
ART3	419	broad.mit.edu	37	4	77033592	77033592	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:77033592G>A	ENST00000355810.4	+	12	1209	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	ART3_ENST00000341029.5_Missense_Mutation_p.G342S|ART3_ENST00000349321.3_Missense_Mutation_p.G353S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	364					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCATCCTCGGGCAAACTGCT	0.413000													15	70					0	0	0.002450	0	0
RNF213	57674	broad.mit.edu	37	17	78318516	78318516	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:78318516C>T	ENST00000582970.1	+	29	6524	c.6381C>T	c.(6379-6381)ttC>ttT	p.F2127F	RNF213_ENST00000336301.6_Silent_p.F200F|RNF213_ENST00000508628.2_Silent_p.F2176F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			TTGACATCTTCCCAAAAGTCA	0.473000													17	108					0	0	0.010504	0	0
C11orf82	220042	broad.mit.edu	37	11	82625826	82625826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:82625826C>T	ENST00000533655.1	+	3	258	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	C11orf82_ENST00000430323.2_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525388.1_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000524921.1_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000528759.1_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000525361.1_Nonsense_Mutation_p.Q16*	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	16					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTTGCTCTCCAGAATTCAAG	0.398000													6	30					0	0	0.001168	0	0
ADAM18	8749	broad.mit.edu	37	8	39495093	39495093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:39495093C>T	ENST00000265707.5	+	9	743	c.698C>T	c.(697-699)tCc>tTc	p.S233F	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.S209F	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	233	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.S233F(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACTGTCTTCCTTGGAATTG	0.323000													16	27					0	0	0.004007	0	0
SPTA1	6708	broad.mit.edu	37	1	158644350	158644350	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158644350C>T	ENST00000368148.3	-	9	1408	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D410N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	410					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATGCCTGTCCAGCAGAACT	0.512000													35	106					0	0	0.003271	0	0
PLCG1	5335	broad.mit.edu	37	20	39794189	39794189	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:39794189G>A	ENST00000373272.2	+	15	2014	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	PLCG1_ENST00000373271.1_Missense_Mutation_p.E537K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E537K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	537					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGAGCCCAAGGAGGTGAGGAA	0.587000													19	17					0	0	0.006122	0	0
KRT33B	3884	broad.mit.edu	37	17	39522757	39522757	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39522757C>T	ENST00000251646.3	-	3	602	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	185	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGCAGCTCCTCCTTCAGGGAC	0.577000													8	47					0	0	0.004482	0	0
THAP8	199745	broad.mit.edu	37	19	36530863	36530863	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36530863G>A	ENST00000292894.1	-	2	803	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'UTR|THAP8_ENST00000538849.1_Intron	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	87							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGTGGTCCCCGGGAGAAGATG	0.627000													16	48					0	0	0.004990	0	0
UBE2N	7334	broad.mit.edu	37	12	93804628	93804628	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:93804628C>T	ENST00000318066.2	-	3	677	c.300G>A	c.(298-300)caG>caA	p.Q100Q	UBE2N_ENST00000549833.1_Silent_p.Q37Q|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000552442.1_Intron	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	100					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						CTGTGCGGATCTGCAGTGCTG	0.498000								Direct reversal of damage;Rad6 pathway					22	47					0	0	0.002299	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696268	60696268	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:60696268G>A	ENST00000005286.4	+	4	855	c.702G>A	c.(700-702)gtG>gtA	p.V234V	TMEM132A_ENST00000453848.2_Silent_p.V234V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	234						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCCTCCCAGTGGGGGGTGTGG	0.711000													5	14					0	0	0.000602	0	0
MDC1	9656	broad.mit.edu	37	6	30671853	30671853	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30671853G>A	ENST00000376406.3	-	10	5754	c.5107C>T	c.(5107-5109)Cct>Tct	p.P1703S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1439S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1703	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTGGTGACAGGAGATTGGAAT	0.567000								Other conserved DNA damage response genes					43	71					0	0	0.008740	0	0
ADCY5	111	broad.mit.edu	37	3	123022927	123022927	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:123022927G>A	ENST00000462833.1	-	13	3758	c.2546C>T	c.(2545-2547)gCt>gTt	p.A849V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A499V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A482V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	849					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTTGACAAAAGCCGCCAGGAA	0.597000													12	27					0	0	0.001855	0	0
AP4E1	23431	broad.mit.edu	37	15	51294751	51294751	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:51294751G>A	ENST00000261842.5	+	21	3412	c.3306G>A	c.(3304-3306)ctG>ctA	p.L1102L	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L1027L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1102					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCTGCTTACTGCATTGCCGAG	0.428000													45	96					0	0	0.003610	0	0
GRM1	2911	broad.mit.edu	37	6	146673564	146673564	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146673564C>T	ENST00000392299.2	+	5	1835	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	GRM1_ENST00000492807.2_Silent_p.I455I|GRM1_ENST00000361719.2_Silent_p.I455I|GRM1_ENST00000282753.1_Silent_p.I455I|GRM1_ENST00000507907.1_Silent_p.I455I|GRM1_ENST00000355289.4_Silent_p.I455I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	455					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCCTCATCAAGTCCTCAT	0.522000													68	101					0	0	0.003610	0	0
PDPN	10630	broad.mit.edu	37	1	13936921	13936921	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:13936921G>A	ENST00000294489.6	+	3	810	c.469G>A	c.(469-471)Gag>Aag	p.E157K	PDPN_ENST00000487038.1_Missense_Mutation_p.E39K|PDPN_ENST00000509009.1_Missense_Mutation_p.E76K|PDPN_ENST00000376061.4_Missense_Mutation_p.E39K|PDPN_ENST00000513143.1_Missense_Mutation_p.E39K|PDPN_ENST00000376057.4_Missense_Mutation_p.E157K|PDPN_ENST00000475043.1_Missense_Mutation_p.E39K			Q86YL7	PDPN_HUMAN	podoplanin	81					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		p.E157K(2)		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)		CATTCGCATCGAGGATCTGCC	0.463000													19	71					0	0	0.008871	0	0
ALG3	10195	broad.mit.edu	37	3	183961673	183961673	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:183961673G>A	ENST00000455059.1	-	6	1172	c.718C>T	c.(718-720)Cca>Tca	p.P240S	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.P224S|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000445626.2_Missense_Mutation_p.P232S|ALG3_ENST00000397676.3_Missense_Mutation_p.P280S			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	280					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCGCCTCTGGGAGGAAGCGC	0.627000													5	33					0	0	0.000602	0	0
GYPB	2994	broad.mit.edu	37	4	144920579	144920579	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:144920579G>A	ENST00000283126.7	-	3	215	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Missense_Mutation_p.R21C|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Missense_Mutation_p.R54C|GYPB_ENST00000429670.2_Missense_Mutation_p.R54C					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ACAGTGAAACGATGGACAAGT	0.313000													4	15					0	0	0.009096	0	0
BCO2	83875	broad.mit.edu	37	11	112064319	112064319	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:112064319G>A	ENST00000357685.5	+	3	551	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	BCO2_ENST00000526088.1_Missense_Mutation_p.R105Q|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Missense_Mutation_p.R105Q|BCO2_ENST00000531169.1_Missense_Mutation_p.R105Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R139Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R105Q|BCO2_ENST00000532593.1_Missense_Mutation_p.R34Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	139					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCTAAAAACCGAATTGTGATC	0.463000													7	33					0	0	0.001984	0	0
ATF1	466	broad.mit.edu	37	12	51208074	51208074	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:51208074G>A	ENST00000262053.3	+	6	545	c.523G>A	c.(523-525)Gat>Aat	p.D175N	ATF1_ENST00000539132.1_Missense_Mutation_p.D40N	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	175					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						TGCATCAGGAGATATGCAAAC	0.418000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								19	37					0	0	0.002299	0	0
OR9G4	283189	broad.mit.edu	37	11	56510823	56510823	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56510823G>A	ENST00000302957.3	-	1	464	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCCAGTACAGAGGGCGGTGG	0.468000													30	84					0	0	0.002096	0	0
MSI1	4440	broad.mit.edu	37	12	120784047	120784047	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120784047G>A	ENST00000257552.2	-	13	1026	c.938C>T	c.(937-939)cCc>cTc	p.P313L		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	313					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGGGGCCGGGGCTGGTGGT	0.701000													3	10					0	0	0.004672	0	0
MB21D1	115004	broad.mit.edu	37	6	74155401	74155401	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:74155401A>T	ENST00000370315.3	-	2	821	c.727T>A	c.(727-729)Tcc>Acc	p.S243T	MB21D1_ENST00000370318.1_Missense_Mutation_p.S243T	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	243										central_nervous_system(1)|large_intestine(4)|lung(1)	6						CGAGTGTTGGAATATTCTTCT	0.308000													18	44					0	0	0.001882	0	0
MYL7	58498	broad.mit.edu	37	7	44179459	44179459	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:44179459C>T	ENST00000458240.1	-	4	506	c.217_splice	c.e4-1	p.G73_splice	MYL7_ENST00000223364.3_Splice_Site_p.G100_splice|MYL7_ENST00000434895.1_5'UTR			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	100					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GGGGTCTGTCCCTGGAAGGCC	0.612000													7	14					0	0	0.001984	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497158	95497158	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:95497158C>T	ENST00000317968.4	+	5	819	c.683C>T	c.(682-684)tCc>tTc	p.S228F	PDLIM5_ENST00000508216.1_Missense_Mutation_p.S119F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.S119F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S106F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.S119F|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.S119F|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.S119F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	228					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGAAGAGGATCCCAGGGTGAC	0.483000													11	40					0	0	0.003163	0	0
ZNF761	388561	broad.mit.edu	37	19	53958194	53958194	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:53958194C>T	ENST00000454407.1	+	0	886							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCAAGCTTTCATTCGCATCT	0.388000													50	71					0	0	0.003610	0	0
FLRT2	23768	broad.mit.edu	37	14	86088740	86088740	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:86088740G>A	ENST00000330753.4	+	2	1649	c.882G>A	c.(880-882)ggG>ggA	p.G294G	FLRT2_ENST00000554746.1_Silent_p.G294G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	294					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G294G(1)		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)		TGACTCAAGGGGTTTTTGATA	0.443000													79	187					0	0	0.003610	0	0
RPL39	6170	broad.mit.edu	37	X	118923942	118923942	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:118923942G>A	ENST00000361575.3	-	2	102	c.36C>T	c.(34-36)ttC>ttT	p.F12F	RPL39_ENST00000468844.1_5'UTR	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39	12					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TCTTGGCCAGGAATCGCTTAA	0.398000													4	30					0	0	0.000602	0	0
NAALADL2	254827	broad.mit.edu	37	3	174815070	174815070	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:174815070G>A	ENST00000454872.1	+	2	662	c.534G>A	c.(532-534)aaG>aaA	p.K178K	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	178					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)		AAGATATTAAGAAGTCTTTCA	0.378000													34	70					0	0	0.004878	0	0
AKAP6	9472	broad.mit.edu	37	14	33068655	33068655	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:33068655G>A	ENST00000280979.4	+	6	2679	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	AKAP6_ENST00000557272.1_Missense_Mutation_p.E837K|AKAP6_ENST00000557354.1_Missense_Mutation_p.E837K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	837					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCTCTCAAGGAAGCTGTGGA	0.403000													31	79					0	0	0.003271	0	0
USH1C	10083	broad.mit.edu	37	11	17531214	17531214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:17531214G>A	ENST00000005226.7	-	18	1701	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTGGAGGGTGGAGGGTGGGGC	0.627000													8	22					0	0	0.006214	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453318	21453318	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:21453318C>T	ENST00000307378.6	-	9	1594	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E292K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E290K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E160K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E160K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	292					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTGACCTCTTCTTTTTGTTTG	0.308000													11	23					0	0	0.001368	0	0
FLVCR1	28982	broad.mit.edu	37	1	213061908	213061908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:213061908C>T	ENST00000366971.4	+	7	1583	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	462					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAAGGTACTTCATCTGGTCTT	0.368000													29	64					0	0	0.007291	0	0
DNAH1	25981	broad.mit.edu	37	3	52422227	52422227	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52422227C>T	ENST00000420323.2	+	57	9309	c.9048C>T	c.(9046-9048)atC>atT	p.I3016I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3016	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCGTACATCGATAATGAAG	0.562000													5	7					0	0	0.003080	0	0
GLIS1	148979	broad.mit.edu	37	1	53972352	53972352	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:53972352G>A	ENST00000312233.2	-	10	2369	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	601					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTCCATTGGGGAAGAAGCCAC	0.627000													27	69					0	0	0.002096	0	0
GIP	2695	broad.mit.edu	37	17	47041831	47041831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:47041831G>A	ENST00000357424.2	-	3	198	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	33					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						AACAGGCAGGGAGGGGAGAGC	0.557000													23	42					0	0	0.002299	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43871886	43871886	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:43871886T>C	ENST00000282406.4	+	2	184	c.74T>C	c.(73-75)aTg>aCg	p.M25T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	25						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCCAACTCATGAAATTTAGA	0.388000													80	179					0	0	0.003610	0	0
TSKS	60385	broad.mit.edu	37	19	50249796	50249796	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50249796C>T	ENST00000246801.3	-	6	1005	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	TSKS_ENST00000358830.3_Missense_Mutation_p.R108Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	308							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCGCCAGCCCGAGGCCCCAT	0.716000													15	39					0	0	0.004007	0	0
TACR3	6870	broad.mit.edu	37	4	104511147	104511147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:104511147G>A	ENST00000304883.2	-	5	1230	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	364						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGCCAGCTCGAAATCTGAGG	0.428000													7	16					0	0	0.001984	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986571	11986571	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:11986571C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GAGACCAGCTCCCACCGCAGC	0.572000													10	43					0	0	0.000978	0	0
CCDC40	55036	broad.mit.edu	37	17	78058567	78058567	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:78058567G>A	ENST00000397545.4	+	13	2042	c.2015G>A	c.(2014-2016)gGt>gAt	p.G672D	CCDC40_ENST00000374877.3_Missense_Mutation_p.G672D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	672					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAAATCAACGGTGACATTGCC	0.527000													13	18					0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32010368	32010368	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32010368G>A	ENST00000375244.3	-	40	12275	c.12074C>T	c.(12073-12075)cCc>cTc	p.P4025L	TNXB_ENST00000375247.2_Missense_Mutation_p.P4023L|TNXB_ENST00000451343.1_Missense_Mutation_p.P454L			P22105	TENX_HUMAN	tenascin XB	4070	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGGAAGGGGATCCGCAG	0.701000													34	75					0	0	0.009718	0	0
CUBN	8029	broad.mit.edu	37	10	16979614	16979614	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:16979614C>T	ENST00000377833.4	-	39	5968	c.5903G>A	c.(5902-5904)gGt>gAt	p.G1968D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1968					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTAAAACACCATCAGGTGC	0.413000													8	22					0	0	0.004482	0	0
IGHG1	3500	broad.mit.edu	37	14	106208050	106208050	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106208050C>T	ENST00000390548.2	-	0	752																											AGCCTTTGACCAGGCAGGTCA	0.622000													78	96					0	0	0.003610	0	0
TFPT	29844	broad.mit.edu	37	19	54611388	54611388	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:54611388G>A	ENST00000391759.1	-	5	992	c.587C>T	c.(586-588)cCa>cTa	p.P196L	TFPT_ENST00000391757.1_Missense_Mutation_p.H184Y|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.P187L	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	196					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TCCATCCCGTGGCACTCGCCG	0.692000			T	TCF3	pre-B ALL								16	48					0	0	0.008871	0	0
IGSF8	93185	broad.mit.edu	37	1	160062338	160062338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160062338C>T	ENST00000368086.1	-	5	1676	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	IGSF8_ENST00000314485.7_Missense_Mutation_p.G487E			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	487	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGAGCTCTCCGTCCTCTGG	0.697000													9	9					0	0	0.004482	0	0
PSG9	5678	broad.mit.edu	37	19	43763053	43763053	+	Missense_Mutation	SNP	C	C	T	rs147249563	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43763053C>T	ENST00000418820.2	-	3	763	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.R315Q|PSG9_ENST00000443718.3_Missense_Mutation_p.R222Q|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	222	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.493000													47	22					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11827196	11827196	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11827196G>A	ENST00000262442.3	+	62	11883	c.11815G>A	c.(11815-11817)Gaa>Aaa	p.E3939K	DNAH9_ENST00000396001.2_Missense_Mutation_p.E251K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3939K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3939	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGGACAGGAAGTGGTGGC	0.473000													8	49					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179498051	179498051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179498051G>A	ENST00000589042.1	-	233	43173	c.42949C>T	c.(42949-42951)Cga>Tga	p.R14317*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R5377*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R11749*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R5252*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R5444*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R12676*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12676							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)			TTTATTAGTCGAGCTGAAATG	0.393000													40	110					0	0	0.002522	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845547	106845547	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:106845547G>A	ENST00000276185.4	+	16	4377	c.4377G>A	c.(4375-4377)aaG>aaA	p.K1459K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1459						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGAGGCCAAGGAGGTAGAGG	0.632000													14	5					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	8996489	8996489	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8996489C>T	ENST00000397910.4	-	61	41286	c.41083G>A	c.(41083-41085)Gaa>Aaa	p.E13695K	MUC16_ENST00000380951.5_Missense_Mutation_p.E336K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13697	SEA 11.			Missing (in Ref. 3; AAK74120).	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						CCATCCTTTTCAGGCCTGGAG	0.547000													26	38					0	0	0.003330	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194871	45194871	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:45194871C>T	ENST00000279027.4	-	11	1509	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	SLC13A3_ENST00000472148.1_Silent_p.E415E|SLC13A3_ENST00000290317.5_Silent_p.E450E|SLC13A3_ENST00000413164.2_Silent_p.E447E|SLC13A3_ENST00000396360.1_Silent_p.E415E|SLC13A3_ENST00000435032.1_Silent_p.E82E|SLC13A3_ENST00000495082.1_Silent_p.E450E	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	497						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCTCACCAGCTCTGCCAGGA	0.607000													91	106					0	0	0.003610	0	0
NMUR1	10316	broad.mit.edu	37	2	232392867	232392867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:232392867C>T	ENST00000305141.4	-	2	998	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCCCGATCGTGCTGCTGG	0.652000													10	43					0	0	0.001368	0	0
SATB2	23314	broad.mit.edu	37	2	200193547	200193547	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:200193547A>T	ENST00000443023.1	-	7	2548	c.1083T>A	c.(1081-1083)aaT>aaA	p.N361K	SATB2_ENST00000417098.1_Missense_Mutation_p.N420K|SATB2_ENST00000428695.1_Missense_Mutation_p.N302K|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000260926.5_Missense_Mutation_p.N420K|SATB2_ENST00000457245.1_Missense_Mutation_p.N420K			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	420						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATTGAGGAAATTCTGCATGG	0.522000													26	34					0	0	0.004656	0	0
CSF1	1435	broad.mit.edu	37	1	110466382	110466382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110466382G>A	ENST00000329608.6	+	6	1530	c.1139G>A	c.(1138-1140)tGg>tAg	p.W380*	CSF1_ENST00000344188.5_Intron|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Nonsense_Mutation_p.W380*	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	380					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAGGACTGGAATCACACC	0.647000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	17					0	0	0.001855	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770009	87770009	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:87770009G>A	ENST00000273905.6	-	1	407	c.260C>T	c.(259-261)gCc>gTc	p.A87V	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	87						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAAGCTAATGGCCAGGAGATA	0.537000													16	30					0	0	0.004007	0	0
PKLR	5313	broad.mit.edu	37	1	155264324	155264324	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:155264324C>T	ENST00000392414.3	-	6	934	c.821G>A	c.(820-822)gGa>gAa	p.G274E	PKLR_ENST00000342741.4_Missense_Mutation_p.G305E	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	305					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GATGCCGTGTCCTTCCGGACC	0.597000													31	35					0	0	0.008361	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317025	30317025	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:30317025G>A	ENST00000375377.1	-	3	2153	c.2052C>T	c.(2050-2052)caC>caT	p.H684H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	684										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTCTGTACCGGTGCCCTGGCC	0.527000													29	58					0	0	0.007291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200813	155200813	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155200813C>T	ENST00000460012.1	-	23	3269	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.G971E|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.G971E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1009E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1009					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTTGCTTTCCCTTTTCTTCT	0.393000													27	73					0	0	0.003954	0	0
TOP2B	7155	broad.mit.edu	37	3	25670418	25670418	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:25670418G>A	ENST00000435706.2	-	15	2012	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	TOP2B_ENST00000264331.4_Missense_Mutation_p.S609F			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	609					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ACTGTAGAAGGAAAGTTCCTG	0.259000													13	35					0	0	0.003163	0	0
COL4A4	1286	broad.mit.edu	37	2	227922198	227922198	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227922198C>T	ENST00000396625.3	-	29	2709	c.2502G>A	c.(2500-2502)ggG>ggA	p.G834G	COL4A4_ENST00000329662.7_Silent_p.G834G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	834	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCCTGGTATCCCTGGAGCAC	0.542000													7	16					0	0	0.003080	0	0
TYR	7299	broad.mit.edu	37	11	89017985	89017985	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:89017985T>A	ENST00000263321.5	+	4	1731	c.1229T>A	c.(1228-1230)gTt>gAt	p.V410D		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	410					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTTCAAGAAGTTTATCCAGAA	0.388000													19	44					0	0	0.008871	0	0
IGIP	492311	broad.mit.edu	37	5	139508158	139508158	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139508158C>T	ENST00000333305.3	+	1	2638	c.97C>T	c.(97-99)Cca>Tca	p.P33S		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	33						extracellular region											TGGGAAATCACCATGTGGAAA	0.423000													37	66					0	0	0.004289	0	0
CLNK	116449	broad.mit.edu	37	4	10509591	10509591	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:10509591C>T	ENST00000226951.6	-	17	1215	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CLNK_ENST00000515667.1_Missense_Mutation_p.E64K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	326	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						ACCTTGTTCTCCTTCATGAAT	0.423000													4	9					0	0	0.009096	0	0
GPC6	10082	broad.mit.edu	37	13	94197620	94197620	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:94197620G>A	ENST00000377047.4	+	2	880	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	89						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCTTGTGGAAGAGACAAGCCA	0.403000													33	64					0	0	0.004289	0	0
CUBN	8029	broad.mit.edu	37	10	16932473	16932473	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:16932473C>T	ENST00000377833.4	-	55	8717	c.8652G>A	c.(8650-8652)ggG>ggA	p.G2884G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2884	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGCCACGTTCCCACAGCCAG	0.552000													23	59					0	0	0.002780	0	0
ARID2	196528	broad.mit.edu	37	12	46230562	46230562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46230562C>T	ENST00000334344.6	+	8	983	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.H122Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	271					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCTTTATTTCATCCACCTCG	0.348000			"""N, S, F"""		hepatocellular carcinoma								17	56					0	0	0.006122	0	0
TYR	7299	broad.mit.edu	37	11	89017984	89017984	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:89017984G>A	ENST00000263321.5	+	4	1730	c.1228G>A	c.(1228-1230)Gtt>Att	p.V410I		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	410					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCTTCAAGAAGTTTATCCAGA	0.388000													16	45					0	0	0.004990	0	0
FSTL5	56884	broad.mit.edu	37	4	162402208	162402208	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:162402208G>A	ENST00000306100.5	-	13	2008	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V	FSTL5_ENST00000427802.2_Silent_p.V514V|FSTL5_ENST00000379164.4_Silent_p.V523V|FSTL5_ENST00000536695.1_Silent_p.V523V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	524						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAACAATAAGGACTCTGTCCA	0.343000													46	65					0	0	0.002852	0	0
RARRES3	5920	broad.mit.edu	37	11	63313695	63313695	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63313695G>A	ENST00000255688.3	+	4	510	c.462G>A	c.(460-462)gcG>gcA	p.A154A	RARRES3_ENST00000354445.2_Silent_p.A154A|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	154					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTCTTTTGCGATTAGGAGAT	0.522000													45	145					0	0	0.003610	0	0
C4orf40	401137	broad.mit.edu	37	4	71024290	71024290	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:71024290G>A	ENST00000344526.5	+	3	510	c.321G>A	c.(319-321)agG>agA	p.R107R	C4orf40_ENST00000502294.1_Silent_p.R107R|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	107						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCCTCCTAGGGGTTTCCCGT	0.527000													70	115					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65273374	65273374	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:65273374G>A	ENST00000534336.1	+	0	8142					NR_002819.2																						GAGTGGCTGAGAGGGCTTTTG	0.433000													23	61					0	0	0.002299	0	0
GAR1	54433	broad.mit.edu	37	4	110743579	110743579	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:110743579G>A	ENST00000226796.6	+	5	770	c.506G>A	c.(505-507)aGa>aAa	p.R169K	GAR1_ENST00000394631.3_Missense_Mutation_p.R169K	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	169	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGACCTCCaagaggtggtggc	0.483000													6	24					0	0	0.001984	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862153	94862153	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:94862153C>T	ENST00000278505.4	+	2	1031	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	305						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTCTAGTCCCCTTTCTAGCAC	0.448000													22	29					0	0	0.002299	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631291	51631291	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51631291C>T	ENST00000440804.3	+	5	1168	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	SIGLEC9_ENST00000250360.3_Silent_p.F367F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	367					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTCATCTTCGTTGTGTAAG	0.612000													65	119					0	0	0.003610	0	0
CHFR	55743	broad.mit.edu	37	12	133438075	133438075	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:133438075G>A	ENST00000266880.7	-	7	828	c.765C>T	c.(763-765)ccC>ccT	p.P255P	CHFR_ENST00000315585.7_Silent_p.P214P|CHFR_ENST00000443047.2_Silent_p.P163P|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.P243P|CHFR_ENST00000432561.2_Silent_p.P255P			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	255					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P255P(1)|p.P214P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTTCTTCACGGGCTCCAAAT	0.567000													20	58					0	0	0.002780	0	0
SIMC1	375484	broad.mit.edu	37	5	175717911	175717911	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:175717911C>T	ENST00000443967.1	+	4	1734	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	SIMC1_ENST00000429602.2_Missense_Mutation_p.H462Y|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1																		TCCTCCGGTTCATCACCTCTT	0.498000													11	18					0	0	0.008291	0	0
TEX15	56154	broad.mit.edu	37	8	30701385	30701385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:30701385G>A	ENST00000256246.2	-	1	5223	c.5149C>T	c.(5149-5151)Cga>Tga	p.R1717*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1717								p.R1717*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCAAGCTTCGCAATGTTGGT	0.388000													25	47					0	0	0.003330	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765932	18765932	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:18765932C>T	ENST00000304081.4	-	4	671	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G251R|NT5C1B_ENST00000359846.2_Missense_Mutation_p.G251R|NT5C1B_ENST00000600945.1_Missense_Mutation_p.G251R	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGGTAGATCCCCCTGCGCTGG	0.672000													4	14					0	0	0.000602	0	0
MTMR3	8897	broad.mit.edu	37	22	30405059	30405059	+	Silent	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30405059T>G	ENST00000333027.3	+	12	1390	c.1062T>G	c.(1060-1062)tcT>tcG	p.S354S	MTMR3_ENST00000406629.1_Silent_p.S354S|MTMR3_ENST00000401950.2_Silent_p.S354S|MTMR3_ENST00000351488.3_Silent_p.S354S|MTMR3_ENST00000323630.5_Silent_p.S218S|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	354	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACATTCATTCTATTCGGAGGA	0.423000													52	119					0	0	0.003610	0	0
IL5RA	3568	broad.mit.edu	37	3	3133936	3133936	+	Nonsense_Mutation	SNP	C	C	T	rs17878935		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:3133936C>T	ENST00000446632.2	-	9	1540	c.966G>A	c.(964-966)tgG>tgA	p.W322*	IL5RA_ENST00000383846.1_Nonsense_Mutation_p.W322*|IL5RA_ENST00000456302.1_Nonsense_Mutation_p.W322*|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Nonsense_Mutation_p.W322*|IL5RA_ENST00000438560.1_Nonsense_Mutation_p.W322*|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000311981.8_Nonsense_Mutation_p.W322*|IL5RA_ENST00000256452.3_Nonsense_Mutation_p.W322*	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	322					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TCCACTCACTCCAGAGCCCTG	0.428000													27	49					0	0	0.007291	0	0
NFASC	23114	broad.mit.edu	37	1	204923368	204923368	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:204923368G>A	ENST00000367172.4	+	6	596	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	NFASC_ENST00000338586.6_Missense_Mutation_p.V90M|NFASC_ENST00000403080.1_Missense_Mutation_p.V90M|NFASC_ENST00000360049.4_Missense_Mutation_p.V84M|NFASC_ENST00000338515.6_Missense_Mutation_p.V90M|NFASC_ENST00000367169.4_Missense_Mutation_p.V90M|NFASC_ENST00000513543.1_Missense_Mutation_p.V84M|NFASC_ENST00000401399.1_Missense_Mutation_p.V90M|NFASC_ENST00000367171.4_Missense_Mutation_p.V90M|NFASC_ENST00000539706.1_Missense_Mutation_p.V84M|NFASC_ENST00000367170.4_Missense_Mutation_p.V90M|NFASC_ENST00000404076.1_Missense_Mutation_p.V84M|NFASC_ENST00000404907.1_Missense_Mutation_p.V84M|NFASC_ENST00000339876.6_Missense_Mutation_p.V90M			O94856	NFASC_HUMAN	neurofascin	90	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGACCCCCGGGTGTCCATGAG	0.597000													15	34					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179592435	179592435	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179592435A>G	ENST00000589042.1	-	68	20094	c.19870T>C	c.(19870-19872)Ttg>Ctg	p.L6624L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L5380L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L6307L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6307	Ig-like 47.						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)			GACCCTTCCAAGCCAATGAAA	0.393000													85	226					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179466620	179466620	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179466620C>T	ENST00000589042.1	-	285	55515	c.55291G>A	c.(55291-55293)Gaa>Aaa	p.E18431K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9491K|TTN_ENST00000342992.6_Missense_Mutation_p.E15863K|TTN_ENST00000460472.2_Missense_Mutation_p.E9366K|TTN_ENST00000342175.6_Missense_Mutation_p.E9558K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16790K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16790							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)			TGTGCATCTTCGGGTATGTCA	0.303000													23	26					0	0	0.001882	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73045798	73045798	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:73045798C>T	ENST00000545377.1	+	3	346	c.170C>T	c.(169-171)tCc>tTc	p.S57F	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S57F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S57F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S57F|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.S57F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S57F	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GTTCTCCAGTCCAGCGTCCCA	0.493000													35	72					0	0	0.006230	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188271	140188271	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140188271G>A	ENST00000530339.1	+	1	1499	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G500E|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G500E	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGGGTAGGGGAGCGCGCG	0.657000													14	30					0	0	0.002450	0	0
USP29	57663	broad.mit.edu	37	19	57640998	57640998	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57640998C>T	ENST00000254181.4	+	4	1409	c.955C>T	c.(955-957)Cca>Tca	p.P319S	USP29_ENST00000598197.1_Missense_Mutation_p.P319S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	319					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAAGGTGTCCCATGGGAATA	0.408000													31	65					0	0	0.002445	0	0
BNC2	54796	broad.mit.edu	37	9	16552546	16552546	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:16552546G>A	ENST00000380672.4	-	5	708	c.651C>T	c.(649-651)gtC>gtT	p.V217V	BNC2_ENST00000545497.1_Silent_p.V122V|BNC2_ENST00000380666.2_Silent_p.V217V|BNC2_ENST00000380667.2_Silent_p.V150V	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGTATCCTCGGACATAGTCCC	0.597000													11	10					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520326	110520326	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:110520326G>A	ENST00000378402.5	+	70	11332	c.11227_splice	c.e70-1	p.G3743_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3743					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTTTCTAGGAATTATTAGA	0.323000										HNSCC(38;0.096)			10	36					0	0	0.006214	0	0
RGS7BP	401190	broad.mit.edu	37	5	63803695	63803695	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:63803695C>T	ENST00000334025.2	+	2	649	c.323C>T	c.(322-324)gCc>gTc	p.A108V	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	108					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AAATTGGCTGCCATCTCAGGG	0.498000													13	29					0	0	0.002450	0	0
COBLL1	22837	broad.mit.edu	37	2	165551668	165551668	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:165551668G>A	ENST00000375458.2	-	11	2455	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L	COBLL1_ENST00000342193.4_Missense_Mutation_p.S783L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S783L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S821L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S850L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	821										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CCAGTCTTTCGATATTTCCAA	0.378000													45	94					0	0	0.003214	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471402	75471402	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:75471402G>A	ENST00000459803.1	-	0	1739					NR_024241.1																						GCCAGAAGCTGAAATGACGGC	0.572000													4	5					0	0	0.000602	0	0
ARAP1	116985	broad.mit.edu	37	11	72407631	72407631	+	Missense_Mutation	SNP	G	G	A	rs146883151		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:72407631G>A	ENST00000359373.5	-	23	4086	c.3235C>T	c.(3235-3237)Cgg>Tgg	p.R1079W	ARAP1_ENST00000334211.8_Missense_Mutation_p.R834W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1079W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R773W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R834W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1079W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R839W|ARAP1_ENST00000495878.1_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1079	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.R839W(1)|p.R1079W(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACTGTGGCCCGGTTGACAGGG	0.567000													144	225					0	0	0.003610	0	0
SSRP1	6749	broad.mit.edu	37	11	57099700	57099700	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:57099700G>A	ENST00000278412.2	-	8	1193	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	309					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	p.S309S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTCATAGAGGGATCCTGACA	0.527000													13	59					0	0	0.001368	0	0
JPH4	84502	broad.mit.edu	37	14	24040471	24040471	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:24040471G>A	ENST00000397118.3	-	6	2371	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	JPH4_ENST00000356300.4_Missense_Mutation_p.S490F|JPH4_ENST00000544177.1_Missense_Mutation_p.S155F	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	490					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTTGGGGCTGGAGAAGGGACC	0.682000													41	72					0	0	0.006230	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628245	33628245	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:33628245C>T	ENST00000321505.4	+	13	4227	c.4047C>T	c.(4045-4047)gcC>gcT	p.A1349A	KIAA1549L_ENST00000389726.3_Silent_p.A1355A					KIAA1549-like																		GCAAGGTGGCCGCTGAACCCT	0.542000													13	32					0	0	0.003163	0	0
FLRT1	23769	broad.mit.edu	37	11	63884171	63884171	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63884171G>A	ENST00000246841.3	+	2	1475	c.432G>A	c.(430-432)agG>agA	p.R144R	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	116					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCATTGCCAGGGACTCGCTGG	0.607000													7	47					0	0	0.001984	0	0
ADD2	119	broad.mit.edu	37	2	70931583	70931583	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:70931583C>T	ENST00000264436.3	-	4	636	c.192G>A	c.(190-192)agG>agA	p.R64R	ADD2_ENST00000407644.2_Silent_p.R64R|ADD2_ENST00000355733.3_Silent_p.R64R|ADD2_ENST00000413157.2_Silent_p.R64R|ADD2_ENST00000430656.1_Silent_p.R80R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	64					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCAGCTCCTCCCTGAAAGACT	0.607000													21	33					0	0	0.002299	0	0
OR51B4	79339	broad.mit.edu	37	11	5322921	5322921	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5322921C>T	ENST00000380224.1	-	1	305	c.256G>A	c.(256-258)Gac>Aac	p.D86N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCTCTGGTCTAGCAGCAGG	0.512000													28	51					0	0	0.006320	0	0
STAG3	10734	broad.mit.edu	37	7	99802737	99802737	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99802737C>T	ENST00000426455.1	+	28	3468	c.3061C>T	c.(3061-3063)Cat>Tat	p.H1021Y	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.H963Y|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.H1021Y|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1021					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGACTCTTCCATCAGGACAA	0.537000													200	81					0	0	0.003610	0	0
ZNF608	57507	broad.mit.edu	37	5	123982551	123982551	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:123982551T>C	ENST00000306315.5	-	4	3961	c.3526A>G	c.(3526-3528)Aaa>Gaa	p.K1176E	ZNF608_ENST00000504926.1_Missense_Mutation_p.K749E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1176						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCTCAGTTTTATTAGGCACT	0.458000													48	110					0	0	0.003610	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440442	103440442	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:103440442G>A	ENST00000361246.2	-	12	1840	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	518					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGCTCTTGGCGAAGCGCCACT	0.557000													15	28					0	0	0.004990	0	0
OR10G7	390265	broad.mit.edu	37	11	123909443	123909443	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:123909443C>T	ENST00000330487.5	-	1	274	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGAGATAGTCCTGCCGCTTGG	0.522000													27	233					0	0	0.008361	0	0
DCAF16	54876	broad.mit.edu	37	4	17805434	17805434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:17805434G>A	ENST00000382247.1	-	3	1391	c.331C>T	c.(331-333)Cct>Tct	p.P111S	DCAF16_ENST00000536863.1_Missense_Mutation_p.P111S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	111						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GGCCATTCAGGAATTGGTTCC	0.498000													53	104					0	0	0.003610	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390856	8390856	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:8390856C>T	ENST00000471889.1	+	5	1688	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L469L|SLC45A1_ENST00000289877.8_Silent_p.L435L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	435					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGACATTCTGAGGGTGGG	0.662000													33	44					0	0	0.002836	0	0
MASP1	5648	broad.mit.edu	37	3	186954275	186954275	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:186954275G>A	ENST00000296280.6	-	11	1609	c.1384C>T	c.(1384-1386)Ccg>Tcg	p.P462S	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.P349S|MASP1_ENST00000495249.1_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	461	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCTGCCACGGGAAGAGGCCA	0.602000													28	109					0	0	0.002096	0	0
IGSF9B	22997	broad.mit.edu	37	11	133800931	133800931	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:133800931G>A	ENST00000321016.8	-	11	1697	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	IGSF9B_ENST00000533871.2_Silent_p.V489V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	489	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTTGGTGGCGACACATTCCC	0.662000													6	32					0	0	0.001168	0	0
DNAH10	196385	broad.mit.edu	37	12	124270434	124270434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:124270434G>A	ENST00000409039.3	+	9	1214	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	397	Stem (By similarity).				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)		CATCGCCTGGGAAATCGCTGA	0.498000													17	54					0	0	0.006122	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382633	41382633	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41382633G>A	ENST00000377801.3	-	2	181	c.107C>T	c.(106-108)tCt>tTt	p.S36F	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S36F			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	36	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S36Y(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGAATCATGAGACCCTAGGAG	0.463000													20	40					0	0	0.008871	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387627	41387627	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:41387627G>A	ENST00000301146.4	-	2	751	c.210C>T	c.(208-210)acC>acT	p.T70T	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	70						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAAGTGAATGGTGAACACGG	0.642000													12	29					0	0	0.001368	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181021	19181021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:19181021C>T	ENST00000375371.3	-	3	964	c.943G>A	c.(943-945)Gag>Aag	p.E315K	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	315					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGCGCAGCTCCGTGAGGTTG	0.657000													10	37					0	0	0.001368	0	0
ITIH1	3697	broad.mit.edu	37	3	52818456	52818456	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52818456G>A	ENST00000273283.2	+	11	1394	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	ITIH1_ENST00000537050.1_Missense_Mutation_p.R169K|ITIH1_ENST00000540715.1_Missense_Mutation_p.R315K|ITIH1_ENST00000542827.1_Missense_Mutation_p.R457K	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	457	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGGCCCAGAGAATCTACGAG	0.587000													18	51					0	0	0.008871	0	0
RIMS1	22999	broad.mit.edu	37	6	73110358	73110358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:73110358G>A	ENST00000264839.7	+	30	4568	c.4568G>A	c.(4567-4569)cGg>cAg	p.R1523Q	RIMS1_ENST00000517960.1_Missense_Mutation_p.R1457Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R808Q|RIMS1_ENST00000414192.2_Missense_Mutation_p.R201Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1463Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R480Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1273Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R799Q|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1457Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R994Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1674Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1353Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1324Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R742Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1674					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCTCACCCGGCGGGCTTCC	0.498000													33	59					0	0	0.004878	0	0
TNR	7143	broad.mit.edu	37	1	175299289	175299289	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:175299289G>A	ENST00000367674.1	-	21	4422	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.F1238F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1238	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTAGGAGGCGAAGGCGGCCT	0.577000													16	31					0	0	0.004007	0	0
DSEL	92126	broad.mit.edu	37	18	65180052	65180052	+	Silent	SNP	G	G	A	rs149858062		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:65180052G>A	ENST00000310045.7	-	2	3297	c.1824C>T	c.(1822-1824)gtC>gtT	p.V608V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	598						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGAAGGCACTGACAGAATTTA	0.348000													16	16					0	0	0.004990	0	0
WDR72	256764	broad.mit.edu	37	15	53908079	53908079	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:53908079G>A	ENST00000396328.1	-	15	2563	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	WDR72_ENST00000559418.1_Missense_Mutation_p.S785F|WDR72_ENST00000360509.5_Missense_Mutation_p.S775F|WDR72_ENST00000557913.1_Missense_Mutation_p.S772F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	775										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATTTTTTTGGAGATCTTCAT	0.408000													44	61					0	0	0.002852	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998385	8998385	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:8998385G>A	ENST00000310455.3	-	2	927	c.777C>T	c.(775-777)ttC>ttT	p.F259F	PPP1R3B_ENST00000519699.1_Silent_p.F259F	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	259					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GAGGGCTTCCGAACTGGTCAA	0.507000													22	45					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	8973575	8973575	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8973575G>A	ENST00000397910.4	-	77	42944	c.42741C>T	c.(42739-42741)ttC>ttT	p.F14247F	MUC16_ENST00000380951.5_Silent_p.F888F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14310				Missing (in Ref. 3; AAK74120).	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						GGCAGAAGCGGAATGTGTCAT	0.547000													5	9					0	0	0.001168	0	0
ZNF560	147741	broad.mit.edu	37	19	9577649	9577649	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9577649A>T	ENST00000301480.4	-	10	2187	c.1974T>A	c.(1972-1974)tgT>tgA	p.C658*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACATGCATTACATTTATAGG	0.378000													26	64					0	0	0.007291	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123705965	123705965	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:123705965G>T	ENST00000606320.1	-	5	1032	c.826C>A	c.(826-828)Ctt>Att	p.L276I	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L124I|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L246I|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L124I			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	124					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)		TTTTCACCAAGAAAATTATGT	0.308000													8	35					0.00307968	0.00352989	0.003080	1	0
SLC9C2	284525	broad.mit.edu	37	1	173494046	173494046	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:173494046G>A	ENST00000367714.3	-	20	2808	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	796					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAACATCACGACCCTCATGC	0.348000													20	37					0	0	0.002299	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972300	43972300	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:43972300C>T	ENST00000262726.7	-	26	3550	c.3297G>A	c.(3295-3297)aaG>aaA	p.K1099K	EFCAB6_ENST00000396231.2_Silent_p.K947K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1099	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACAGAAATCCTTAAGAACTT	0.318000													23	65					0	0	0.004656	0	0
ZNF845	91664	broad.mit.edu	37	19	53854516	53854516	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:53854516C>T	ENST00000458035.1	+	4	705	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ZNF845_ENST00000595091.1_Silent_p.F196F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAATAATTTCCTGAATTCTT	0.363000													20	64					0	0	0.007413	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953474	8953474	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8953474G>A	ENST00000595891.1	+	3	351	c.120G>A	c.(118-120)acG>acA	p.T40T	MBD3L1_ENST00000305625.2_Silent_p.T40T			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	40	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GGCCAGTAACGAGAATTACAC	0.507000													18	46					0	0	0.006122	0	0
CGNL1	84952	broad.mit.edu	37	15	57835964	57835964	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:57835964C>T	ENST00000281282.5	+	15	3440	c.3362C>T	c.(3361-3363)tCc>tTc	p.S1121F		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1121						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GACAAGATTTCCCTGGAGAGG	0.567000													4	35					0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	71025992	71025992	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:71025992C>T	ENST00000393567.2	-	24	3916	c.3766G>A	c.(3766-3768)Gat>Aat	p.D1256N	HYDIN_ENST00000448089.2_Missense_Mutation_p.D1208N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1256										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCATTTAAATCCATCTCGGGG	0.458000													15	18					0	0	0.002299	0	0
SMYD1	150572	broad.mit.edu	37	2	88405935	88405935	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:88405935C>T	ENST00000419482.2	+	8	1158	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.S345L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGCATTGTTTCGGAGGTCCTT	0.522000													22	51					0	0	0.002780	0	0
DNAH10	196385	broad.mit.edu	37	12	124315133	124315133	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:124315133G>A	ENST00000409039.3	+	25	4103	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1360	Stem (By similarity).				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)		TGTCTTTTTTGAAATGACCGA	0.373000													26	61					0	0	0.007291	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604687	62604687	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:62604687G>A	ENST00000281156.4	-	6	941	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	221	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCCGAGGGGTGAGAACACCTC	0.592000													18	28					0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82578962	82578962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:82578962G>A	ENST00000423517.2	-	6	11279	c.10942C>T	c.(10942-10944)Cct>Tct	p.P3648S	PCLO_ENST00000333891.8_Missense_Mutation_p.P3648S|PCLO_ENST00000437081.1_Missense_Mutation_p.P368S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3579					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATCATCAGGGAGGGGTTTT	0.468000													117	80					0	0	0.003610	0	0
PLA2G7	7941	broad.mit.edu	37	6	46677145	46677145	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46677145T>A	ENST00000274793.7	-	9	984	c.788A>T	c.(787-789)gAt>gTt	p.D263V	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D263V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	263					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTTTTCCCTATCAATAGAGTC	0.313000													30	46					0	0	0.005524	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													25	28					0	0	0.004656	0	0
AADAC	13	broad.mit.edu	37	3	151531955	151531955	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:151531955G>A	ENST00000232892.6	+	1	131	c.5G>A	c.(4-6)gGa>gAa	p.G2E	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.G2E|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	2					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCACCATGGGAAGAAAATCG	0.433000													34	74					0	0	0.006230	0	0
METTL7B	196410	broad.mit.edu	37	12	56077639	56077639	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56077639G>A	ENST00000394252.3	+	2	750	c.541G>A	c.(541-543)Gga>Aga	p.G181R		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	181							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						AGAACCATATGGAAGCTGGGC	0.542000													25	94					0	0	0.003954	0	0
DAAM1	23002	broad.mit.edu	37	14	59798110	59798110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:59798110C>T	ENST00000395125.1	+	13	1767	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	DAAM1_ENST00000351081.1_Missense_Mutation_p.P582S|DAAM1_ENST00000360909.3_Missense_Mutation_p.P582S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	582	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGGGCCTCCTCCCTTAGGGGC	0.622000													14	34					0	0	0.001855	0	0
CENPF	1063	broad.mit.edu	37	1	214813728	214813728	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:214813728C>T	ENST00000366955.3	+	12	2215	c.2047C>T	c.(2047-2049)Cac>Tac	p.H683Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	683					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAACCTTCACAACGTGTT	0.418000													5	15					0	0	0.000602	0	0
OR10K2	391107	broad.mit.edu	37	1	158390030	158390030	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158390030G>A	ENST00000314902.2	-	1	626	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACAATAAGGGGATAGCCAGGA	0.448000													7	37					0	0	0.001984	0	0
MYEF2	50804	broad.mit.edu	37	15	48451901	48451901	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:48451901G>A	ENST00000324324.7	-	6	905	c.626C>T	c.(625-627)cCa>cTa	p.P209L	MYEF2_ENST00000267836.6_Missense_Mutation_p.P209L	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	209					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TATGGAAGGTGGTAAATTCAT	0.448000													17	38					0	0	0.004990	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156975	26156975	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26156975G>A	ENST00000304218.3	+	1	417	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	119					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCAAGCCTAAGGCTAAAAAGG	0.647000													10	25					0	0	0.008291	0	0
NDST1	3340	broad.mit.edu	37	5	149901077	149901077	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:149901077C>T	ENST00000261797.6	+	2	763	c.261C>T	c.(259-261)gtC>gtT	p.V87V	NDST1_ENST00000523767.1_Silent_p.V87V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	87	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGCTGGTCTTTGTGGAGA	0.662000													26	72					0	0	0.004656	0	0
MMP8	4317	broad.mit.edu	37	11	102592240	102592240	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102592240G>A	ENST00000236826.3	-	4	612	c.514C>T	c.(514-516)Cca>Tca	p.P172S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	172					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CCATCAAATGGAGAATTGTCA	0.433000													8	42					0	0	0.003080	0	0
TRPC7	57113	broad.mit.edu	37	5	135610433	135610433	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135610433G>A	ENST00000513104.1	-	4	1338	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Silent_p.F291F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	352					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACAGCCAGGAATTTCACAG	0.468000													13	22					0	0	0.001855	0	0
OR51E2	81285	broad.mit.edu	37	11	4703752	4703752	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4703752T>C	ENST00000396950.3	-	2	429	c.190A>G	c.(190-192)Atg>Gtg	p.M64V		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTGCAAGCATGCAGAGAAAG	0.502000													25	64					0	0	0.004656	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529451	5529451	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5529451C>T	ENST00000311659.4	-	2	1485	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	446										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAGCCCCGAGACAAGAT	0.542000													20	49					0	0	0.007413	0	0
CENPI	2491	broad.mit.edu	37	X	100402756	100402756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:100402756C>T	ENST00000372927.1	+	18	2108	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	CENPI_ENST00000218507.5_Missense_Mutation_p.R611C|CENPI_ENST00000423383.1_Missense_Mutation_p.R611C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	611					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGTTAGATATCGTAAAAATTT	0.269000													17	13					0	0	0.001882	0	0
PTH1R	5745	broad.mit.edu	37	3	46944953	46944953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46944953G>A	ENST00000449590.1	+	16	1792	c.1589G>A	c.(1588-1590)gGc>gAc	p.G530D	PTH1R_ENST00000418619.1_Missense_Mutation_p.G530D|PTH1R_ENST00000313049.5_Missense_Mutation_p.G530D|PTH1R_ENST00000430002.2_Missense_Mutation_p.G530D	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	530						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						ACCACCAACGGCCACCCTCAG	0.682000													19	49					0	0	0.008871	0	0
DUSP22	56940	broad.mit.edu	37	6	348244	348244	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:348244C>T	ENST00000604971.1	+	3	1209	c.96C>T	c.(94-96)ctC>ctT	p.L32L	DUSP22_ENST00000605863.1_Silent_p.L32L|DUSP22_ENST00000605315.1_Silent_p.L32L|DUSP22_ENST00000344450.5_Silent_p.L135L|DUSP22_ENST00000603453.1_Silent_p.L32L|DUSP22_ENST00000419235.2_Silent_p.L135L|DUSP22_ENST00000605035.1_Silent_p.L32L			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	135					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGAGACAGCTCCAGGAGTTTG	0.572000													18	80					0	0	0.007413	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492948	21492948	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:21492948C>T	ENST00000377142.4	-	2	791	c.435G>A	c.(433-435)cgG>cgA	p.R145R		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	145					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCCGAAAGCGCCGCTCCAGCT	0.672000													9	20					0	0	0.008291	0	0
HYDIN	54768	broad.mit.edu	37	16	71101144	71101144	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:71101144C>T	ENST00000288168.10	-	15	2188	c.2175G>A	c.(2173-2175)caG>caA	p.Q725Q	HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393567.2_Intron			Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGCCCATTACTGGAGGCTCG	0.562000													4	0					0	0	0.009096	0	0
C11orf54	28970	broad.mit.edu	37	11	93480597	93480597	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:93480597T>G	ENST00000528288.1	+	2	273	c.38T>G	c.(37-39)cTt>cGt	p.L13R	C11orf54_ENST00000354421.3_Missense_Mutation_p.L13R|C11orf54_ENST00000331239.4_Missense_Mutation_p.L13R|C11orf54_ENST00000540113.1_5'UTR|C11orf54_ENST00000528099.1_Missense_Mutation_p.L13R	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	13						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTACCAAGTCTTGAAGAGCTT	0.313000													7	44					0	0	0.004482	0	0
MYBPH	4608	broad.mit.edu	37	1	203138156	203138156	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:203138156G>A	ENST00000255416.4	-	9	1352	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	432	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GCCTTGCTCAGAGAGGGCGCG	0.552000													22	97					0	0	0.003330	0	0
MAP3K5	4217	broad.mit.edu	37	6	136944029	136944029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:136944029G>A	ENST00000359015.4	-	15	2467	c.2107C>T	c.(2107-2109)Caa>Taa	p.Q703*	MAP3K5_ENST00000355845.4_Intron	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	703	Protein kinase.				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)		ATTCTGACTTGGTTGCTCAAG	0.408000													64	138					0	0	0.003610	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258199	9258199	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:9258199T>G	ENST00000383440.2	+	8	5122	c.4865T>G	c.(4864-4866)tTg>tGg	p.L1622W	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L1622W|ANKRD12_ENST00000262126.3_Missense_Mutation_p.L1645W	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1645						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTAACTCATTTGAGTAGGTGT	0.368000													7	22					0	0	0.003080	0	0
PSD4	23550	broad.mit.edu	37	2	113943683	113943683	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:113943683G>A	ENST00000245796.6	+	5	1674	c.1479G>A	c.(1477-1479)ttG>ttA	p.L493L	PSD4_ENST00000441564.2_Silent_p.L465L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	493					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCACTCTTGGAGACGGATG	0.567000													16	71					0	0	0.008871	0	0
MTMR3	8897	broad.mit.edu	37	22	30416768	30416768	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30416768G>A	ENST00000333027.3	+	17	3448	c.3120G>A	c.(3118-3120)caG>caA	p.Q1040Q	MTMR3_ENST00000406629.1_Silent_p.Q1040Q|MTMR3_ENST00000401950.2_Silent_p.Q1040Q|MTMR3_ENST00000351488.3_Silent_p.Q1040Q|MTMR3_ENST00000323630.5_Silent_p.Q904Q|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1040					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCCACCAGCAGGAAGTAGAAA	0.547000													11	29					0	0	0.000978	0	0
ATP10A	57194	broad.mit.edu	37	15	25966940	25966940	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:25966940G>A	ENST00000356865.6	-	7	1338	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	409					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCAGAGCTCGGCACTGCAGCT	0.418000													22	79					0	0	0.003330	0	0
NTSR1	4923	broad.mit.edu	37	20	61340633	61340633	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:61340633G>A	ENST00000370501.3	+	1	445	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	25						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCGCAGGCCGGACTGGAGGAG	0.751000													3	6					0	0	0.004672	0	0
MYH13	8735	broad.mit.edu	37	17	10231253	10231253	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10231253C>T	ENST00000418404.3	-	21	2784	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q	MYH13_ENST00000570743.1_Missense_Mutation_p.R874Q|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R874Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	874					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGCTCCTTCCGGCGAGCCTC	0.537000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	32					0	0	0.002299	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454799	96454799	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96454799G>A	ENST00000285979.6	+	4	806	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E203K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AAAATTCAATGAAAACCTCAG	0.378000													8	19					0	0	0.004482	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933631	94933631	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94933631C>T	ENST00000337425.5	-	3	845	c.771G>A	c.(769-771)atG>atA	p.M257I	SERPINA9_ENST00000380365.3_Missense_Mutation_p.M239I|SERPINA9_ENST00000424550.2_Missense_Mutation_p.M108I|SERPINA9_ENST00000546329.1_Missense_Mutation_p.M221I|SERPINA9_ENST00000448305.2_Missense_Mutation_p.M159I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.M157I	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	239					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTGGTGCATCATGGGGACAT	0.512000													12	30					0	0	0.004007	0	0
CHD3	1107	broad.mit.edu	37	17	7797852	7797852	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7797852C>T	ENST00000380358.4	+	8	1373	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	CHD3_ENST00000330494.7_Missense_Mutation_p.R399C|CHD3_ENST00000358181.4_Missense_Mutation_p.R399C	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	399					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCTGCCCTCGTGCCTACCA	0.577000													15	58					0	0	0.004007	0	0
STMN4	81551	broad.mit.edu	37	8	27101227	27101227	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:27101227C>T	ENST00000350889.4	-	2	127		c.e2+1		STMN4_ENST00000265770.7_Splice_Site|STMN4_ENST00000519997.1_Intron|STMN4_ENST00000522908.1_Splice_Site|STMN4_ENST00000523048.1_Splice_Site|STMN4_ENST00000519614.1_Splice_Site	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4						intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TTTGTACCTACCAGCAAGGGT	0.522000													17	54					0	0	0.006122	0	0
MSH4	4438	broad.mit.edu	37	1	76349430	76349430	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:76349430C>T	ENST00000263187.3	+	15	2135	c.2031C>T	c.(2029-2031)atC>atT	p.I677I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	677					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTTTTGATCATAACTGGAC	0.343000								Mismatch excision repair (MMR)					20	57					0	0	0.001882	0	0
ETV4	2118	broad.mit.edu	37	17	41611318	41611318	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:41611318C>T	ENST00000319349.5	-	6	590	c.292G>A	c.(292-294)Gag>Aag	p.E98K	ETV4_ENST00000591713.1_Missense_Mutation_p.E98K|ETV4_ENST00000545954.1_Missense_Mutation_p.E59K|ETV4_ENST00000545089.1_Missense_Mutation_p.E98K|ETV4_ENST00000538265.1_Missense_Mutation_p.E59K|ETV4_ENST00000393664.2_Missense_Mutation_p.E98K	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	98					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CTCTGGGGCTCCTTCTTGATC	0.647000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								7	12					0	0	0.003080	0	0
DHX57	90957	broad.mit.edu	37	2	39029908	39029908	+	Silent	SNP	G	G	A	rs146662521	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:39029908G>A	ENST00000295373.6	-	23	4092	c.3966C>T	c.(3964-3966)ttC>ttT	p.F1322F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1322							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGGAGACAACGAACTCTCCTC	0.507000													39	84					0	0	0.005524	0	0
TP63	8626	broad.mit.edu	37	3	189582116	189582116	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:189582116C>T	ENST00000264731.3	+	5	764	c.675C>T	c.(673-675)atC>atT	p.I225I	TP63_ENST00000320472.5_Silent_p.I225I|TP63_ENST00000392463.2_Silent_p.I131I|TP63_ENST00000382063.4_Silent_p.I140I|TP63_ENST00000354600.5_Silent_p.I131I|TP63_ENST00000449992.1_Silent_p.I46I|TP63_ENST00000392460.3_Silent_p.I225I|TP63_ENST00000418709.2_Silent_p.I225I|TP63_ENST00000456148.1_Silent_p.I131I|TP63_ENST00000437221.1_Silent_p.I131I|TP63_ENST00000440651.2_Silent_p.I225I|TP63_ENST00000392461.3_Silent_p.I131I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	225					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGCTGTTATCCGCGCCATGC	0.527000										HNSCC(45;0.13)			38	93					0	0	0.006230	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847424	28847424	+	Silent	SNP	C	C	T	rs1140135		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:28847424C>T	ENST00000336783.4	+	22	3233	c.3066C>T	c.(3064-3066)ccC>ccT	p.P1022P	ATXN2L_ENST00000570200.1_Silent_p.P1022P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.P1022P|ATXN2L_ENST00000564304.1_Silent_p.P1028P|ATXN2L_ENST00000382686.4_Silent_p.P1022P|ATXN2L_ENST00000395547.2_Silent_p.P1022P|ATXN2L_ENST00000325215.6_Silent_p.P1022P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1022						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCCTACCCCTACATCGGAC	0.637000													23	33					0	0	0.002780	0	0
PTPRD	5789	broad.mit.edu	37	9	8633401	8633401	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:8633401G>A	ENST00000381196.4	-	11	811	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	PTPRD_ENST00000356435.5_Missense_Mutation_p.P90S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P90S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P90S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P90S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P90S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P90S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P90S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P90S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P90S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P90S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P90S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	90	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATCCCTCGGAGTCCGTAAG	0.438000										TSP Lung(15;0.13)			27	28					0	0	0.006320	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241209	81241209	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:81241209G>A	ENST00000599697.1	-	5	791	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	264					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTCAAAGATGAAACTCTCAC	0.438000													34	67					0	0	0.004878	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861407	38861407	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38861407C>T	ENST00000409235.3	+	29	3570	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1112V|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1152					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCAAGGAAGCCGTGGAGAGA	0.557000													29	65					0	0	0.009535	0	0
CASQ2	845	broad.mit.edu	37	1	116283393	116283393	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:116283393C>T	ENST00000261448.5	-	3	615	c.376G>A	c.(376-378)Gat>Aat	p.D126N	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	126					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AACTCGCCATCAAACTCTATT	0.448000													17	18					0	0	0.001882	0	0
CELA2B	51032	broad.mit.edu	37	1	15808812	15808812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:15808812G>A	ENST00000375910.3	+	4	305	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTACGTTGCAGAGTCCGGCTC	0.592000													28	56					0	0	0.005443	0	0
PRSS58	136541	broad.mit.edu	37	7	141952147	141952147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141952147C>T	ENST00000552471.1	-	5	939	c.620G>A	c.(619-621)gGa>gAa	p.G207E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G207E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGACAGGATTCCTTGAAGCAT	0.398000													21	13					0	0	0.001882	0	0
ST18	9705	broad.mit.edu	37	8	53030941	53030941	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:53030941G>A	ENST00000276480.7	-	24	3499	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	939						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAGGTTGGATTCATTCAG	0.323000													14	52					0	0	0.003163	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074834	143074834	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:143074834G>A	ENST00000367603.2	-	10	7493	c.6751C>T	c.(6751-6753)Ccc>Tcc	p.P2251S	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2251S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2251S|RP1-67K17.3_ENST00000437067.1_RNA	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGCAATGTGGGTGAAGGATGT	0.562000													24	49					0	0	0.002299	0	0
CARF	79800	broad.mit.edu	37	2	203807494	203807494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:203807494C>T	ENST00000320443.8	+	4	1153	c.110C>T	c.(109-111)tCc>tTc	p.S37F	CARF_ENST00000545253.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.S37F|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000402905.2_Missense_Mutation_p.S37F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.S37F|CARF_ENST00000414439.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.S25F|CARF_ENST00000428585.1_Intron					calcium responsive transcription factor																		AGGGATTCTTCCTTTGGACAA	0.353000													118	250					0	0	0.003610	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207039	105207039	+	Missense_Mutation	SNP	C	C	T	rs144784529		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105207039C>T	ENST00000332972.5	+	6	866	c.707C>T	c.(706-708)tCc>tTc	p.S236F	ADSSL1_ENST00000330877.2_Missense_Mutation_p.S193F	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	193					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GATGAGTTTTCCTCCAGGTAC	0.597000													25	66					0	0	0.003330	0	0
TBX22	50945	broad.mit.edu	37	X	79286410	79286410	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:79286410C>T	ENST00000442340.1	+	9	1493	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	TBX22_ENST00000373294.5_Silent_p.L455L|TBX22_ENST00000373291.1_Silent_p.L335L|TBX22_ENST00000373296.3_Silent_p.L455L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	455					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAATATTTTTCTGCCAAACTC	0.383000													22	11					0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237870339	237870339	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237870339C>T	ENST00000366574.2	+	68	9988	c.9671C>T	c.(9670-9672)tCc>tTc	p.S3224F	RYR2_ENST00000542537.1_Missense_Mutation_p.S3208F|RYR2_ENST00000360064.6_Missense_Mutation_p.S3222F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3224					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)			TTAGCCGAGTCCGGCATTCGC	0.468000													30	98					0	0	0.002445	0	0
PKHD1	5314	broad.mit.edu	37	6	51918901	51918901	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:51918901G>A	ENST00000371117.3	-	20	2174	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_ENST00000340994.4_Silent_p.I633I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	633					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAAGCCGATTGTGAAGG	0.478000													19	39					0	0	0.007413	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611444	56611444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:56611444G>A	ENST00000407595.2	+	6	2118	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	539										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCGTGTCCTGGAATTAGGCAA	0.408000													15	46					0	0	0.006122	0	0
TET2	54790	broad.mit.edu	37	4	106155146	106155146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:106155146C>T	ENST00000540549.1	+	3	907	c.47C>T	c.(46-48)cCa>cTa	p.P16L	TET2_ENST00000380013.4_Missense_Mutation_p.P16L|TET2_ENST00000413648.2_Missense_Mutation_p.P16L|TET2_ENST00000305737.2_Missense_Mutation_p.P16L|TET2_ENST00000394764.1_Missense_Mutation_p.P16L|TET2_ENST00000513237.1_Missense_Mutation_p.P37L|TET2_ENST00000545826.1_Missense_Mutation_p.P16L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	16					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGACTAAGTCCATTCCTGATA	0.498000			"""Mis N, F"""		MDS								8	27					0	0	0.003080	0	0
IGHG3	3502	broad.mit.edu	37	14	106235802	106235802	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106235802G>A	ENST00000390551.2	-	0	904																											CGCTGGGGTAGAAGCCTTTGA	0.627000													73	139					0	0	0.003610	0	0
LTBP1	4052	broad.mit.edu	37	2	33500068	33500068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:33500068C>T	ENST00000404816.2	+	17	3133	c.2780C>T	c.(2779-2781)tCc>tTc	p.S927F	LTBP1_ENST00000418533.2_Missense_Mutation_p.S601F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S928F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S602F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S548F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S548F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S601F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	927	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTCTGCTCCCAGGGCCGC	0.438000													23	52					0	0	0.002299	0	0
LRRC8D	55144	broad.mit.edu	37	1	90401047	90401047	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:90401047G>A	ENST00000337338.5	+	3	2827	c.2420G>A	c.(2419-2421)gGg>gAg	p.G807E	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G807E	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	807						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GAGCTGAAGGGGAACTGCTTG	0.542000													20	25					0	0	0.001882	0	0
ZNF687	57592	broad.mit.edu	37	1	151259302	151259302	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151259302C>T	ENST00000368879.2	+	2	633	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	179	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCGCTGCCTCCCTCTGCACC	0.617000													10	48					0	0	0.006214	0	0
ANKHD1	54882	broad.mit.edu	37	5	139893013	139893013	+	Silent	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139893013A>T	ENST00000297183.6	+	24	4390	c.4266A>T	c.(4264-4266)gcA>gcT	p.A1422A	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.A1422A|ANKHD1_ENST00000360839.2_Silent_p.A1422A	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAGCTGCAGAAGCAAATA	0.348000													14	29					0	0	0.003163	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368272	74368272	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:74368272C>T	ENST00000290438.3	-	8	659	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	207										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						AGCGCCCGCTCCTTTATGGTC	0.592000													22	251					0	0	0.003954	0	0
SYNE3	161176	broad.mit.edu	37	14	95923556	95923556	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:95923556C>T	ENST00000334258.5	-	4	761	c.747G>A	c.(745-747)cgG>cgA	p.R249R	SYNE3_ENST00000557275.1_Silent_p.R249R|SYNE3_ENST00000553340.1_Silent_p.R249R	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GCTTGCAGTTCCGCCCCAGGC	0.622000													44	76					0	0	0.002522	0	0
SACS	26278	broad.mit.edu	37	13	23907707	23907707	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:23907707G>A	ENST00000382298.3	-	10	10896	c.10308C>T	c.(10306-10308)atC>atT	p.I3436I	SACS_ENST00000402364.1_Silent_p.I2686I|SACS_ENST00000382292.3_Silent_p.I3436I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3436					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCTGAAGGGATACTTTTTG	0.358000													38	61					0	0	0.005524	0	0
SCN4A	6329	broad.mit.edu	37	17	62020281	62020281	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:62020281C>T	ENST00000435607.1	-	23	4269	c.4193G>A	c.(4192-4194)gGg>gAg	p.G1398E	SCN4A_ENST00000578147.1_Missense_Mutation_p.G1398E	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1398					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CACGCACTCCCCTGTGAAGAT	0.517000													22	54					0	0	0.002299	0	0
FAT3	120114	broad.mit.edu	37	11	92534496	92534496	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:92534496C>T	ENST00000298047.6	+	9	8334	c.8317C>T	c.(8317-8319)Cgt>Tgt	p.R2773C	FAT3_ENST00000525166.1_Missense_Mutation_p.R2623C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2773C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2773	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGCCTTGACCGTGAAACCAG	0.443000										TCGA Ovarian(4;0.039)			90	329					0	0	0.003610	0	0
IGSF8	93185	broad.mit.edu	37	1	160062789	160062789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160062789G>A	ENST00000368086.1	-	4	1453	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	IGSF8_ENST00000314485.7_Nonsense_Mutation_p.R413*			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	413	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGACCCTCGAACATAGGCT	0.652000													13	16					0	0	0.001855	0	0
LRRC55	219527	broad.mit.edu	37	11	56954888	56954888	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56954888C>T	ENST00000497933.1	+	2	1107	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	290						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCACCAACTTCCTCCTGGGCA	0.572000													11	44					0	0	0.001855	0	0
CDHR2	54825	broad.mit.edu	37	5	176003025	176003025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:176003025G>A	ENST00000510636.1	+	12	1307	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D345N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D345N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	345	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAGAGTGATGGACGTCAATGA	0.582000													17	26					0	0	0.007413	0	0
GRIK3	2899	broad.mit.edu	37	1	37282712	37282712	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:37282712G>A	ENST00000373091.3	-	13	2056	c.2040C>T	c.(2038-2040)acC>acT	p.T680T	GRIK3_ENST00000373093.4_Silent_p.T680T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	680					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACTCGATTTTGGTTTGCTTGG	0.557000													23	39					0	0	0.008361	0	0
PEAR1	375033	broad.mit.edu	37	1	156882687	156882687	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156882687C>T	ENST00000338302.3	+	19	2560	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	PEAR1_ENST00000292357.7_Missense_Mutation_p.R779W			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	779						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATTGGCTATCGGCACTGGCA	0.602000													15	72					0	0	0.007413	0	0
ABCB5	340273	broad.mit.edu	37	7	20685612	20685612	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:20685612G>A	ENST00000404938.2	+	9	1484	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	463	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGCAAAGGATTTTGGCAT	0.353000													22	48					0	0	0.010504	0	0
PTPRD	5789	broad.mit.edu	37	9	8486155	8486155	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:8486155C>T	ENST00000381196.4	-	25	3205	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	PTPRD_ENST00000356435.5_Missense_Mutation_p.G888R|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.G888R|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G875R|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G866R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	888	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATGATGCTCCCTTGTGGATG	0.463000										TSP Lung(15;0.13)			25	17					0	0	0.003954	0	0
MON2	23041	broad.mit.edu	37	12	62892735	62892735	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:62892735G>A	ENST00000393630.3	+	5	863	c.472G>A	c.(472-474)Gat>Aat	p.D158N	MON2_ENST00000552115.1_Missense_Mutation_p.D158N|MON2_ENST00000393629.2_Missense_Mutation_p.D158N|MON2_ENST00000393632.2_Missense_Mutation_p.D158N|MON2_ENST00000280379.6_Missense_Mutation_p.D158N|MON2_ENST00000546600.1_Missense_Mutation_p.D158N|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D158N	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	158					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTCACAAAAGATAATATTAC	0.343000													24	55					0	0	0.002299	0	0
TMEM130	222865	broad.mit.edu	37	7	98457957	98457957	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:98457957G>A	ENST00000450876.1	-	3	1459	c.144C>T	c.(142-144)ttC>ttT	p.F48F	TMEM130_ENST00000416379.2_Silent_p.F132F|TMEM130_ENST00000546258.1_Silent_p.F113F|TMEM130_ENST00000345589.4_Silent_p.F30F|TMEM130_ENST00000339375.4_Silent_p.F132F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	132						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCCACGAGGAACTCTGGGA	0.557000													16	40					0	0	0.004007	0	0
NOX3	50508	broad.mit.edu	37	6	155764548	155764548	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:155764548G>A	ENST00000159060.2	-	5	447	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	115	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCACGATGTGGATGGCTAGGA	0.527000													12	25					0	0	0.001368	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661000	162661000	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:162661000G>A	ENST00000375514.5	+	4	492	c.205G>A	c.(205-207)Gga>Aga	p.G69R	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G58R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G58R|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G58R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G58R|SLC4A10_ENST00000535165.1_Missense_Mutation_p.G58R	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	58					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCCTTGGGAGGAAGAAAAAG	0.433000													15	25					0	0	0.003163	0	0
ZNF100	163227	broad.mit.edu	37	19	21910166	21910166	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:21910166G>A	ENST00000358296.6	-	5	1146	c.948C>T	c.(946-948)ccC>ccT	p.P316P	ZNF100_ENST00000305570.6_Silent_p.P252P	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TACATTTGTAGGGTTTCACTC	0.393000													18	36					0	0	0.007413	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163826	73163826	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:73163826C>A	ENST00000545377.1	+	19	2454	c.2278C>A	c.(2278-2280)Cca>Aca	p.P760T	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P760T|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P760T|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P760T|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P760T|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P447T|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P760T	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CAGAAGTGTTCCAGGCACCAC	0.542000													8	20					0.00621372	0.00711682	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179589042	179589042	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179589042G>A	ENST00000589042.1	-	72	21284	c.21060C>T	c.(21058-21060)ttC>ttT	p.F7020F	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5776F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F6703F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6703	Ig-like 52.						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)			TTTGAACCTGGAAAGTGTATG	0.398000													23	37					0	0	0.002299	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684323	75684323	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:75684323A>G	ENST00000370855.5	-	17	1494	c.1381T>C	c.(1381-1383)Tta>Cta	p.L461L	SLC44A5_ENST00000370859.3_Silent_p.L461L|SLC44A5_ENST00000535611.1_Silent_p.L331L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	461						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAGACAAATAAGTTGTATACA	0.438000													19	42					0	0	0.007413	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983071	92983071	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:92983071C>G	ENST00000523629.1	-	11	1808	c.1354G>C	c.(1354-1356)Gcc>Ccc	p.A452P	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A415P|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A463P|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A452P|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A425P|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A425P|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A415P|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A415P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	452					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCATTGACGGCCTCCTCTGTG	0.507000													7	27					0	0	0.006214	0	0
PLCB4	5332	broad.mit.edu	37	20	9404516	9404516	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:9404516G>A	ENST00000378501.2	+	24	2420	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	PLCB4_ENST00000334005.3_Missense_Mutation_p.R802Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.R802Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R814Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.R802Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.R814Q|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	802					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTCCCTTCGAAATGAGGGA	0.408000													11	20					0	0	0.001368	0	0
S100A6	6277	broad.mit.edu	37	1	153507797	153507797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153507797G>A	ENST00000496817.1	-	2	321	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	S100A6_ENST00000368719.4_Nonsense_Mutation_p.Q7*|S100A6_ENST00000368720.2_Nonsense_Mutation_p.Q7*			P06703	S10A6_HUMAN	S100 calcium binding protein A6	7					axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATGGCCTGATCCAGGGGG	0.607000													32	44					0	0	0.003755	0	0
TRPM3	80036	broad.mit.edu	37	9	73477938	73477938	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:73477938G>A	ENST00000377110.2	-	3	591	c.348C>T	c.(346-348)tcC>tcT	p.S116S	TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000423814.3_Silent_p.S118S|TRPM3_ENST00000377111.2_Silent_p.S116S|TRPM3_ENST00000357533.2_Silent_p.S118S|TRPM3_ENST00000396283.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	116						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCATTTCGGGAGAGGCGAC	0.502000													36	46					0	0	0.004289	0	0
TTC21B	79809	broad.mit.edu	37	2	166805994	166805994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166805994G>A	ENST00000243344.7	-	3	309	c.172C>T	c.(172-174)Cga>Tga	p.R58*	AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	58						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAAATTCTCGAAGAGCTTCT	0.308000													28	96					0	0	0.006320	0	0
SRRM4	84530	broad.mit.edu	37	12	119552115	119552115	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:119552115C>T	ENST00000267260.4	+	3	699	c.311C>T	c.(310-312)cCt>cTt	p.P104L	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	104					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACACCACCACCTTCCTCCAGG	0.498000													6	15					0	0	0.001168	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	rs147603617		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	967					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592000													91	189					0	0	0.003610	0	0
POLR2B	5431	broad.mit.edu	37	4	57883317	57883317	+	Silent	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:57883317T>C	ENST00000381227.1	+	16	2477	c.2064T>C	c.(2062-2064)gcT>gcC	p.A688A	POLR2B_ENST00000441246.2_Silent_p.A681A|POLR2B_ENST00000431623.2_Silent_p.A613A|POLR2B_ENST00000314595.5_Silent_p.A688A			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	688					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGAAGTAGCTTATTGTTCCA	0.418000													74	81					0	0	0.003610	0	0
LARP4	113251	broad.mit.edu	37	12	50855014	50855014	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:50855014A>G	ENST00000398473.2	+	11	1330	c.1218A>G	c.(1216-1218)agA>agG	p.R406R	LARP4_ENST00000518561.1_Silent_p.R336R|LARP4_ENST00000347328.5_Silent_p.R335R|LARP4_ENST00000522085.1_Silent_p.R406R|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000518444.1_Silent_p.R405R|LARP4_ENST00000429001.3_Silent_p.R412R	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	406							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATAGTTCAAGAAACTTTCCAG	0.478000													39	68					0	0	0.007835	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882983	228882983	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:228882983G>A	ENST00000392056.3	-	7	2633	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P863S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	863						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGACCGTTGGGGACCTTTGT	0.493000													47	70					0	0	0.003610	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297865	139297865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:139297865G>A	ENST00000406164.1	-	4	594	c.31C>T	c.(31-33)Cct>Tct	p.P11S	NMNAT3_ENST00000296202.7_Missense_Mutation_p.P48S|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Missense_Mutation_p.P11S|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.P11S|NMNAT3_ENST00000512391.1_Missense_Mutation_p.P48S			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	48					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TCGTTGACAGGAGAGATGATA	0.557000													8	24					0	0	0.003080	0	0
UPF1	5976	broad.mit.edu	37	19	18971235	18971235	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18971235C>T	ENST00000262803.5	+	16	2560	c.2288C>T	c.(2287-2289)tCc>tTc	p.S763F	UPF1_ENST00000599848.1_Missense_Mutation_p.S774F	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	774					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCGGGCACCTCCTACCTGAAC	0.547000													37	90					0	0	0.007835	0	0
PLB1	151056	broad.mit.edu	37	2	28823676	28823676	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:28823676G>A	ENST00000422425.2	+	35	2486	c.2441_splice	c.e35-1	p.E814_splice	PLB1_ENST00000327757.5_Splice_Site_p.E825_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	825	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTTTCTCAGGGATCTTATGA	0.418000													24	58					0	0	0.005443	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164247100G>A	ENST00000296533.2	-	2	1138	c.607C>T	c.(607-609)Cca>Tca	p.P203S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	203					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)				GAGTCCGATGGAAATTGATCA	0.383000													8	27					0	0	0.003080	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840903	36840903	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:36840903G>A	ENST00000557188.1	+	0	534																											AGAGAGAAAAGATGGCAAGAT	0.483000													15	24					0	0	0.003163	0	0
CDC34	997	broad.mit.edu	37	19	536311	536311	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:536311A>G	ENST00000215574.4	+	3	551	c.333A>G	c.(331-333)tcA>tcG	p.S111S		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	111					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGCTGCCCTCAGAGAGGTGGA	0.642000													5	15					0	0	0.001984	0	0
IQCA1	79781	broad.mit.edu	37	2	237396808	237396808	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:237396808G>A	ENST00000409907.3	-	4	757	c.483C>T	c.(481-483)ttC>ttT	p.F161F	IQCA1_ENST00000309507.5_Silent_p.F157F|IQCA1_ENST00000431676.2_Silent_p.F161F			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	161							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CAGCCTCATCGAAAGGGATAC	0.398000													3	11					0	0	0.004672	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052317	55052317	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:55052317G>A	ENST00000474759.1	+	35	3008	c.2960G>A	c.(2959-2961)gGg>gAg	p.G987E	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G987E|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G987E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G893E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	987						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G987>?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GAGACTACAGGGAATATTGCT	0.512000													11	20					0	0	0.000978	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386445	22386445	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22386445C>T	ENST00000390439.2	+	0	83																											GGCAGGCATTCGAGCTTTATT	0.418000													40	104					0	0	0.003610	0	0
SV2A	9900	broad.mit.edu	37	1	149883495	149883495	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:149883495G>A	ENST00000369146.3	-	3	1150	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SV2A_ENST00000369145.1_Silent_p.F220F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	220					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTCCCCAGAGGAAGGCTCCCA	0.582000													5	14					0	0	0.000602	0	0
MRRF	92399	broad.mit.edu	37	9	125084878	125084878	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125084878C>T	ENST00000344641.3	+	7	1082	c.771C>T	c.(769-771)acC>acT	p.T257T	MRRF_ENST00000297908.3_Silent_p.T205T|MRRF_ENST00000394315.3_3'UTR|MRRF_ENST00000373723.4_3'UTR|MRRF_ENST00000373729.1_Silent_p.T213T	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	257					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CAGTGAAGACCAAAGAACTCC	0.532000													13	18					0	0	0.004990	0	0
COL7A1	1294	broad.mit.edu	37	3	48612933	48612933	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:48612933C>T	ENST00000328333.8	-	73	6126	c.6019G>A	c.(6019-6021)Gac>Aac	p.D2007N	COL7A1_ENST00000454817.1_Missense_Mutation_p.D1975N	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2007	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCACGGTCGCCCTTCAGC	0.697000													5	14					0	0	0.000602	0	0
PDE1A	5136	broad.mit.edu	37	2	183129116	183129116	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:183129116C>T	ENST00000435564.1	-	2	327	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	PDE1A_ENST00000456212.1_Missense_Mutation_p.E43K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E43K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E27K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E43K|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E27K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E43K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	43	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCACCTCTTTCCAGCTGCTTC	0.353000													18	39					0	0	0.008871	0	0
GPR110	266977	broad.mit.edu	37	6	46988502	46988502	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46988502A>G	ENST00000371253.2	-	7	791	c.576T>C	c.(574-576)atT>atC	p.I192I	GPR110_ENST00000371243.2_Silent_p.I192I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	192	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAAAACCTTGAATTCTTTCAT	0.388000													15	25					0	0	0.002450	0	0
OR6K2	81448	broad.mit.edu	37	1	158669785	158669785	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158669785C>T	ENST00000359610.2	-	1	701	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACAATACCATCGTAGGACATG	0.473000													34	55					0	0	0.002096	0	0
TLR7	51284	broad.mit.edu	37	X	12904432	12904432	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:12904432C>T	ENST00000380659.3	+	3	944	c.805C>T	c.(805-807)Cct>Tct	p.P269S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	269					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)	TGCCCCATTTCCTTGTGCGCC	0.373000													27	19					0	0	0.005443	0	0
MGAM	8972	broad.mit.edu	37	7	141752740	141752740	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141752740C>T	ENST00000475668.2	+	26	3169	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1039C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1039					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAACCCCCTTCGCCTGGATGT	0.458000													62	18					0	0	0.003610	0	0
RGAG1	57529	broad.mit.edu	37	X	109694939	109694939	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:109694939C>T	ENST00000465301.2	+	3	1340	c.1094C>T	c.(1093-1095)cCa>cTa	p.P365L	RGAG1_ENST00000540313.1_Missense_Mutation_p.P365L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	365										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAAACGATGCCAGCCCCAGGC	0.542000													105	81					0	0	0.003610	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121952	151121952	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:151121952T>C	ENST00000367328.1	+	7	1039	c.727T>C	c.(727-729)Tcc>Ccc	p.S243P	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S243P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	243	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCCTCTGGGGTCCTATCTCTT	0.498000													34	63					0	0	0.004289	0	0
COL4A4	1286	broad.mit.edu	37	2	227896882	227896882	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227896882C>T	ENST00000396625.3	-	39	3895	c.3688G>A	c.(3688-3690)Ggt>Agt	p.G1230S	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1230S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1230	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGGGGACCTTTCTTTCCA	0.522000													39	81					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161273	123161273	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123161273T>C	ENST00000264501.4	+	29	4809	c.4436T>C	c.(4435-4437)cTa>cCa	p.L1479P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1479P|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1479P			Q2LD37	K1109_HUMAN	KIAA1109	1479					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						ATAGAACATCTATATATTGTA	0.403000													16	32					0	0	0.004007	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595653	111595653	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:111595653G>A	ENST00000261486.5	-	8	942	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	222	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTAATCCTAAGAAATACTCAG	0.353000													20	42					0	0	0.002299	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222087	140222087	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140222087C>T	ENST00000531613.1	+	1	1181	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P394L	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCATGTCCCCTTCAAGCTG	0.567000													55	140					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32037562	32037562	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32037562G>A	ENST00000375244.3	-	15	5556	c.5355C>T	c.(5353-5355)acC>acT	p.T1785T	TNXB_ENST00000375247.2_Silent_p.T1785T			P22105	TENX_HUMAN	tenascin XB	1867	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACGGTGGTCACCTGCA	0.602000													121	309					0	0	0.003610	0	0
NRAP	4892	broad.mit.edu	37	10	115391667	115391667	+	Silent	SNP	C	C	T	rs139136683		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:115391667C>T	ENST00000369358.4	-	17	1933	c.1689G>A	c.(1687-1689)ctG>ctA	p.L563L	NRAP_ENST00000369360.3_Silent_p.L528L|NRAP_ENST00000360478.3_Silent_p.L528L|NRAP_ENST00000359988.3_Silent_p.L563L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	563						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACATGGCATCCAGCTTCATCT	0.443000													50	48					0	0	0.003610	0	0
BAGE2	85319	broad.mit.edu	37	21	11039377	11039377	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:11039377C>T	ENST00000470054.1	-	0	826									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGACATTTTCATTTCTTCAC	0.338000													8	138					0	0	0.004482	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091654	220091654	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:220091654C>T	ENST00000366926.3	-	3	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	301					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGCGGTCTCCTTGATAAGC	0.468000													26	103					0	0	0.004656	0	0
MPP1	4354	broad.mit.edu	37	X	154013346	154013346	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:154013346T>G	ENST00000413259.3	-	8	1066	c.674A>C	c.(673-675)tAt>tCt	p.Y225S	MPP1_ENST00000393531.1_Missense_Mutation_p.Y235S|MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.Y255S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	255	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTGGCCAGATATTTGTCTTT	0.522000													13	7					0	0	0.001855	0	0
NR4A2	4929	broad.mit.edu	37	2	157186171	157186171	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:157186171G>A	ENST00000339562.4	-	3	890	c.528C>T	c.(526-528)ttC>ttT	p.F176F	NR4A2_ENST00000539077.1_Silent_p.F187F|NR4A2_ENST00000409108.2_Silent_p.F176F|NR4A2_ENST00000426264.1_Silent_p.F113F|NR4A2_ENST00000409572.1_Silent_p.F176F|NR4A2_ENST00000429376.1_Silent_p.F113F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	176	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCTTAAAGGAGAAGAGGGAGA	0.637000													55	154					0	0	0.003610	0	0
KIF2B	84643	broad.mit.edu	37	17	51900977	51900977	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:51900977C>T	ENST00000268919.4	+	1	739	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	195					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAAGAGTATCGCAGGCACCT	0.577000													14	46					0	0	0.002450	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:158256915C>T	ENST00000296526.7	+	10	1684	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_ENST00000507898.1_Silent_p.I406I|GRIA2_ENST00000264426.9_Silent_p.I453I|GRIA2_ENST00000393815.2_Silent_p.I406I|GRIA2_ENST00000449365.1_Silent_p.I406I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	453					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGCAGAAATCGCCAAACATT	0.443000													10	14					0	0	0.008291	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157478	26157478	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:26157478G>A	ENST00000325250.1	+	2	563	c.376G>A	c.(376-378)Gag>Aag	p.E126K		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	126	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGAAACGAAAGAGCCAATTAC	0.433000													5	3					0	0	0.000602	0	0
GON4L	54856	broad.mit.edu	37	1	155721823	155721823	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:155721823G>A	ENST00000437809.1	-	30	6520	c.6398C>T	c.(6397-6399)gCc>gTc	p.A2133V	GON4L_ENST00000271883.5_Missense_Mutation_p.A2133V|GON4L_ENST00000368331.1_Missense_Mutation_p.A2134V			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTTCTGCGGCCTTTGGCTG	0.557000													21	89					0	0	0.010504	0	0
GPR116	221395	broad.mit.edu	37	6	46847732	46847732	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46847732C>T	ENST00000283296.7	-	9	1147	c.859G>A	c.(859-861)Gac>Aac	p.D287N	GPR116_ENST00000362015.4_Missense_Mutation_p.D287N|GPR116_ENST00000265417.7_Missense_Mutation_p.D287N|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	287	Ig-like 1.				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)			CTGACTGTGTCCCCTTCAAAG	0.413000													14	44					0	0	0.004007	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117982500	117982500	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:117982500G>A	ENST00000534111.1	+	8	887	c.622G>A	c.(622-624)Gag>Aag	p.E208K	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.E205K|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.E63K|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.E170K|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.E210K	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	210	Peptidase S1.		V -> G (in dbSNP:rs1941635).		proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGTGTGGAGGAGGCCTCTGT	0.632000													13	40					0	0	0.001855	0	0
NARG2	79664	broad.mit.edu	37	15	60768358	60768358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:60768358G>A	ENST00000261520.4	-	3	284	c.50C>T	c.(49-51)tCc>tTc	p.S17F	NARG2_ENST00000561114.1_Missense_Mutation_p.S17F|NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000558654.1_5'UTR	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	17						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATTTTTGGGGGAAATATCCCT	0.323000													6	15					0	0	0.001168	0	0
LRBA	987	broad.mit.edu	37	4	151749501	151749501	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:151749501G>A	ENST00000535741.1	-	30	5475	c.5002C>T	c.(5002-5004)Ccg>Tcg	p.P1668S	LRBA_ENST00000507224.1_Missense_Mutation_p.P1668S|LRBA_ENST00000357115.3_Missense_Mutation_p.P1668S|LRBA_ENST00000510413.1_Missense_Mutation_p.P1668S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1668						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAAACTGACGGTGTAGCCTTA	0.433000													28	48					0	0	0.008361	0	0
ELOVL4	6785	broad.mit.edu	37	6	80635945	80635945	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:80635945C>T	ENST00000369816.4	-	2	554	c.254G>A	c.(253-255)gGg>gAg	p.G85E		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	85					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CAAAACCATCCCAAAATTATA	0.348000													12	27					0	0	0.002450	0	0
CPA3	1359	broad.mit.edu	37	3	148596449	148596449	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148596449G>A	ENST00000296046.3	+	5	440	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	130					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGCTTGGACTGAAAAGATGAT	0.284000													41	102					0	0	0.003610	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	G	A	rs142762485		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:189612073G>A	ENST00000264731.3	+	14	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.E524K|TP63_ENST00000354600.5_Missense_Mutation_p.E515K|TP63_ENST00000449992.1_Missense_Mutation_p.E430K|TP63_ENST00000456148.1_Missense_Mutation_p.E511K|TP63_ENST00000440651.2_Missense_Mutation_p.E605K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	609					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)			23	57					0	0	0.003330	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267701	43267701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:43267701G>A	ENST00000372585.5	+	5	819	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G240R|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G240R	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	242						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTCTGGACAGGGGGCGTGAT	0.622000													29	94					0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9003586	9003586	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9003586C>T	ENST00000397910.4	-	49	40257	c.40054G>A	c.(40054-40056)Gag>Aag	p.E13352K	MUC16_ENST00000380951.5_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13354	SEA 9.			T -> A (in Ref. 3; AAK74120).	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						AGGACCCTCTCCGTGGTGTTG	0.572000													87	169					0	0	0.003610	0	0
OR10A7	121364	broad.mit.edu	37	12	55615172	55615172	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55615172C>T	ENST00000326258.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGCTTATGATCGCTTTGTGGC	0.448000													41	70					0	0	0.006230	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405450	28405450	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:28405450C>T	ENST00000394835.3	+	15	3147	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.I861I	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	985							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCACCAAATCCAATGTGCTG	0.478000													9	68					0	0	0.006214	0	0
SMYD3	64754	broad.mit.edu	37	1	246027153	246027153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:246027153C>T	ENST00000490107.1	-	9	888	c.672G>A	c.(670-672)tgG>tgA	p.W224*	SMYD3_ENST00000388985.4_Nonsense_Mutation_p.W283*|SMYD3_ENST00000541742.1_Nonsense_Mutation_p.W224*|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	283	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GAACTTCCTTCCATACTTGCT	0.423000													7	46					0	0	0.003080	0	0
SACS	26278	broad.mit.edu	37	13	23928867	23928867	+	Silent	SNP	G	G	A	rs144468379	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:23928867G>A	ENST00000382298.3	-	8	2472	c.1884C>T	c.(1882-1884)ccC>ccT	p.P628P	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.P628P|SACS_ENST00000476776.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	628					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.P628P(1)|p.P481P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCACCCACGCGGGCGTCACCT	0.562000													8	45					0	0	0.003080	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111530295	111530295	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:111530295G>A	ENST00000261486.5	-	17	1748	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000515563.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	491						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCTCTATTAGAATTTTCTGA	0.373000													5	26					0	0	0.001168	0	0
PLAU	5328	broad.mit.edu	37	10	75676277	75676277	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75676277C>T	ENST00000446342.1	+	10	1681	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	PLAU_ENST00000372764.3_Missense_Mutation_p.P417L|C10orf55_ENST00000409178.1_5'UTR|C10orf55_ENST00000412307.2_5'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.P381L	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	417	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CACTTCTTACCCTGGATCCGC	0.572000													4	13					0	0	0.001168	0	0
RAMP3	10268	broad.mit.edu	37	7	45222933	45222933	+	Silent	SNP	C	C	T	rs148542783		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:45222933C>T	ENST00000242249.4	+	3	407	c.369C>T	c.(367-369)atC>atT	p.I123I	RAMP3_ENST00000496212.1_Silent_p.I123I|RAMP3_ENST00000481345.1_Silent_p.I123I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	123					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCCCGCTGATCGTTATACCCG	0.617000													57	126					0	0	0.003610	0	0
IL32	9235	broad.mit.edu	37	16	3119352	3119352	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:3119352A>T	ENST00000525643.2	+	7	895	c.563A>T	c.(562-564)aAa>aTa	p.K188I	IL32_ENST00000548246.1_Missense_Mutation_p.K148I|IL32_ENST00000531965.1_Missense_Mutation_p.K178I|IL32_ENST00000534507.1_Missense_Mutation_p.K234I|IL32_ENST00000528163.2_Missense_Mutation_p.K188I|IL32_ENST00000325568.5_Missense_Mutation_p.K188I|IL32_ENST00000530890.1_Missense_Mutation_p.K168I|IL32_ENST00000548476.1_Missense_Mutation_p.K234I|IL32_ENST00000548652.1_Missense_Mutation_p.K179I|IL32_ENST00000549213.1_Missense_Mutation_p.K131I|IL32_ENST00000529550.1_Missense_Mutation_p.K188I|IL32_ENST00000526464.2_Missense_Mutation_p.K188I|IL32_ENST00000551513.1_Missense_Mutation_p.K225I|IL32_ENST00000552664.1_Missense_Mutation_p.K188I|IL32_ENST00000529699.1_Missense_Mutation_p.K168I|IL32_ENST00000533097.2_Missense_Mutation_p.K188I|IL32_ENST00000552356.1_Missense_Mutation_p.K168I|IL32_ENST00000530538.2_Missense_Mutation_p.K188I|IL32_ENST00000552936.1_Missense_Mutation_p.K212I|IL32_ENST00000396890.2_Missense_Mutation_p.K234I|IL32_ENST00000551122.1_Missense_Mutation_p.K131I|IL32_ENST00000440815.3_Missense_Mutation_p.K188I|IL32_ENST00000008180.9_Missense_Mutation_p.K168I|IL32_ENST00000382213.3_Missense_Mutation_p.K179I|IL32_ENST00000444393.3_Missense_Mutation_p.K188I|IL32_ENST00000396887.3_Missense_Mutation_p.K131I			P24001	IL32_HUMAN	interleukin 32	234					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CAATCCTCAAAATGAAGATAC	0.612000													44	94					0	0	0.003214	0	0
PCCA	5095	broad.mit.edu	37	13	100953732	100953732	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:100953732G>A	ENST00000376285.1	+	13	1122	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	PCCA_ENST00000376286.4_Missense_Mutation_p.E336K|PCCA_ENST00000376279.3_Missense_Mutation_p.E362K	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	362	ATP-grasp.|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)	TCCTGTCACAGAATGCATTAC	0.458000													47	56					0	0	0.003610	0	0
XKR6	286046	broad.mit.edu	37	8	10755744	10755744	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10755744C>T	ENST00000416569.2	-	3	1670	c.1644G>A	c.(1642-1644)acG>acA	p.T548T	XKR6_ENST00000304437.2_Silent_p.T269T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	548						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTGTTGTTCCGTTACGGCTC	0.627000													13	52					0	0	0.001855	0	0
RFX7	64864	broad.mit.edu	37	15	56387725	56387725	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:56387725G>A	ENST00000423270.1	-	9	2200	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	RFX7_ENST00000422057.1_Missense_Mutation_p.S637F|RFX7_ENST00000559447.2_Missense_Mutation_p.S637F|RFX7_ENST00000317318.6_Missense_Mutation_p.S734F	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	637					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGGCAGAGGAATTCAAGGG	0.413000													9	29					0	0	0.006214	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38503919	38503919	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:38503919C>T	ENST00000381669.3	-	4	360	c.214_splice	c.e4-1	p.G72_splice	BAIAP2L2_ENST00000332536.5_Splice_Site_p.G72_splice	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	72	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCAAGATCTCCCCTGGAGGCA	0.637000													18	53					0	0	0.004990	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013483	73013483	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:73013483T>C	ENST00000308744.6	+	4	1621	c.1523T>C	c.(1522-1524)tTa>tCa	p.L508S	NPFFR2_ENST00000395999.1_Missense_Mutation_p.L409S|NPFFR2_ENST00000358749.3_Missense_Mutation_p.L406S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	508					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAACAGGAATTAGTGATGGAA	0.343000													17	61					0	0	0.008871	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11374442	11374442	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:11374442C>T	ENST00000528848.2	-	1	462	c.225G>A	c.(223-225)aaG>aaA	p.K75K	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		TAATTTTCTTCTTTTTTACTG	0.363000													46	54					0	0	0.003610	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74203779	74203779	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:74203779G>A	ENST00000286523.5	-	3	2453	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	ELMSAN1_ENST00000394071.2_Silent_p.N557N	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GCTCAGCAGGGTTCTGTTCAG	0.602000													24	46					0	0	0.003330	0	0
HPS1	3257	broad.mit.edu	37	10	100183371	100183371	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:100183371G>A	ENST00000325103.6	-	16	1820	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.I529I	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	529					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACACCATGGTGATGTTCCTCC	0.617000									Hermansky-Pudlak syndrome				91	90					0	0	0.003610	0	0
KMT2A	4297	broad.mit.edu	37	11	118359392	118359392	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118359392C>T	ENST00000534358.1	+	11	4419	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	KMT2A_ENST00000389506.5_Missense_Mutation_p.P1466S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P1428S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAACGAGCGCCCTCTGGAGGA	0.433000													30	31					0	0	0.002096	0	0
UNK	85451	broad.mit.edu	37	17	73780818	73780818	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73780818G>A	ENST00000293218.3	+	2	85	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGACATAGAACCACAACT	0.637000													7	17					0	0	0.006214	0	0
EMB	133418	broad.mit.edu	37	5	49699028	49699028	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:49699028C>T	ENST00000303221.5	-	6	1076	c.861G>A	c.(859-861)aaG>aaA	p.K287K	EMB_ENST00000508934.1_Silent_p.K233K|EMB_ENST00000514111.1_Silent_p.K237K	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	287						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCTTCTTTTTCTTTTGTGTGT	0.328000													9	27					0	0	0.008291	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989422	121989422	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:121989422G>A	ENST00000263707.5	-	13	1418	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	441					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ACCACCACATGGATGCCCGTG	0.637000													19	32					0	0	0.010504	0	0
GPR179	440435	broad.mit.edu	37	17	36492922	36492922	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:36492922G>A	ENST00000342292.4	-	4	1186	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	389						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGCAGCAGGCCTGGCAGGC	0.657000													5	11					0	0	0.001168	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359404	128359404	+	Splice_Site	SNP	G	G	A	rs141842204		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:128359404G>A	ENST00000262462.4	+	6	2265		c.e6+1		SLC27A6_ENST00000395266.1_Splice_Site|SLC27A6_ENST00000506176.1_Splice_Site			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6						long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGAAAAAAGGTAAGACTTCT	0.413000													23	33					0	0	0.004656	0	0
MRAP2	112609	broad.mit.edu	37	6	84765066	84765066	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:84765066G>A	ENST00000257776.4	+	2	164	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	10					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|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			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTTCTAACAGAACCTCCCAG	0.433000													28	56					0	0	0.005443	0	0
C1orf27	54953	broad.mit.edu	37	1	186375259	186375259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186375259C>T	ENST00000367470.3	+	11	1212	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	C1orf27_ENST00000432021.3_Missense_Mutation_p.P326S|C1orf27_ENST00000287859.6_Missense_Mutation_p.P349S|C1orf27_ENST00000419367.3_Missense_Mutation_p.P317S	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	349						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AGTCTTTGTTCCCCTTCCTGG	0.373000													28	45					0	0	0.007291	0	0
CD200R1	131450	broad.mit.edu	37	3	112648221	112648221	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:112648221C>T	ENST00000471858.1	-	3	499	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CD200R1_ENST00000295863.4_Silent_p.K67K|CD200R1_ENST00000490004.1_Silent_p.K89K|CD200R1_ENST00000440122.2_Silent_p.K112K|CD200R1_ENST00000308611.3_Silent_p.K112K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	89	Ig-like V-type.		R -> K (in allele 2; dbSNP:rs2171509).		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						TTGTTTCTTTCTTGTAGGCTT	0.438000													33	54					0	0	0.004289	0	0
ZNF474	133923	broad.mit.edu	37	5	121488390	121488390	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:121488390C>T	ENST00000296600.4	+	2	1088	c.705C>T	c.(703-705)tcC>tcT	p.S235S	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	235						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GCACCCTGTCCCTTCCTATTC	0.522000													48	80					0	0	0.003610	0	0
BAG4	9530	broad.mit.edu	37	8	38067760	38067760	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:38067760A>G	ENST00000287322.4	+	5	1394	c.1123A>G	c.(1123-1125)Agt>Ggt	p.S375G	BAG4_ENST00000432471.2_Missense_Mutation_p.S339G	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	375					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TTCAGATGAAAGTACTCCTCC	0.408000													15	45					0	0	0.004007	0	0
OR51B4	79339	broad.mit.edu	37	11	5322940	5322940	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5322940G>A	ENST00000380224.1	-	1	286	c.237C>T	c.(235-237)gtC>gtT	p.V79V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACACCCAGGACTGTGGGCA	0.507000													28	49					0	0	0.006320	0	0
C6orf118	168090	broad.mit.edu	37	6	165715342	165715342	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:165715342C>T	ENST00000543069.1	-	2	738	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	C6orf118_ENST00000230301.8_Missense_Mutation_p.E157K			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	157										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTTTTCTTCCTTCCCCTCT	0.612000													38	73					0	0	0.005524	0	0
NYAP1	222950	broad.mit.edu	37	7	100087196	100087196	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100087196G>A	ENST00000423930.1	+	4	2011	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	NYAP1_ENST00000454988.1_Missense_Mutation_p.E561K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E618K			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	618	Poly-Glu.																ACCAGAGGAGGAAGAAGAGGA	0.607000													72	28					0	0	0.003610	0	0
FBN3	84467	broad.mit.edu	37	19	8175973	8175973	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8175973A>G	ENST00000600128.1	-	33	4593	c.4179T>C	c.(4177-4179)ttT>ttC	p.F1393F	FBN3_ENST00000270509.2_Silent_p.F1393F|FBN3_ENST00000601739.1_Silent_p.F1393F			Q75N90	FBN3_HUMAN	fibrillin 3	1393	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGTGGGGTCAAAGCCCATCT	0.652000													9	28					0	0	0.004482	0	0
OR4K2	390431	broad.mit.edu	37	14	20344630	20344630	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20344630C>T	ENST00000298642.2	+	1	240	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTTTCAATCATTGATATGT	0.423000													42	113					0	0	0.007835	0	0
GPD2	2820	broad.mit.edu	37	2	157425915	157425915	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:157425915C>T	ENST00000310454.6	+	11	1713	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	GPD2_ENST00000409674.1_Silent_p.T447T|GPD2_ENST00000438166.2_Silent_p.T447T|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Silent_p.T220T	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	447					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAGAAGATACCATAAATGCTG	0.388000													13	24					0	0	0.002450	0	0
EHD3	30845	broad.mit.edu	37	2	31489532	31489532	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:31489532C>T	ENST00000322054.5	+	6	1855	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	524	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCTGCCTGCCCACCTCCTGCC	0.602000													21	47					0	0	0.002299	0	0
CRB1	23418	broad.mit.edu	37	1	197390617	197390617	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:197390617G>A	ENST00000367397.1	+	0	660				CRB1_ENST00000543483.1_Silent_p.K252K|CRB1_ENST00000538660.1_Silent_p.K553K|CRB1_ENST00000367399.2_Silent_p.K441K|CRB1_ENST00000367400.3_Silent_p.K553K|CRB1_ENST00000544212.1_Silent_p.K34K|CRB1_ENST00000535699.1_Silent_p.K484K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATCAGTCAAAGGTGCTTCTGT	0.458000													34	61					0	0	0.007835	0	0
OR4K5	79317	broad.mit.edu	37	14	20389214	20389214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20389214C>T	ENST00000315915.4	+	1	474	c.449C>T	c.(448-450)gCt>gTt	p.A150V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCCTGGGCTGTGAGCTTG	0.443000													62	125					0	0	0.003610	0	0
AKAP3	10566	broad.mit.edu	37	12	4725009	4725009	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4725009C>T	ENST00000545990.2	-	6	2982	c.2458G>A	c.(2458-2460)Gtt>Att	p.V820I	AKAP3_ENST00000228850.1_Missense_Mutation_p.V820I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	820					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GACTGCAGAACCTCGCCCACA	0.567000													33	77					0	0	0.004289	0	0
SPTBN5	51332	broad.mit.edu	37	15	42158681	42158681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42158681C>T	ENST00000320955.6	-	37	6718	c.6491G>A	c.(6490-6492)tGg>tAg	p.W2164*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2164					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGCCTGGATCCAGTCCTCAGC	0.632000													6	26					0	0	0.001984	0	0
JARID2	3720	broad.mit.edu	37	6	15511546	15511546	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:15511546G>A	ENST00000341776.2	+	13	3110	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	JARID2_ENST00000397311.3_Missense_Mutation_p.E784K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	956	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCTGCTGAGGAGGAGAACAA	0.572000													35	77					0	0	0.004878	0	0
SHPRH	257218	broad.mit.edu	37	6	146266711	146266711	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146266711G>A	ENST00000367503.3	-	8	1782	c.1384C>T	c.(1384-1386)Ctt>Ttt	p.L462F	SHPRH_ENST00000275233.7_Missense_Mutation_p.L462F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L462F|SHPRH_ENST00000367505.2_Missense_Mutation_p.L462F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	462	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAGATGGAAAGGATGGACACT	0.338000													14	32					0	0	0.001855	0	0
TRPC7	57113	broad.mit.edu	37	5	135587547	135587547	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135587547C>T	ENST00000513104.1	-	6	1651	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E341K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E396K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	457					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCAGATTTCCTTGCATTCG	0.542000													21	40					0	0	0.003330	0	0
SPAM1	6677	broad.mit.edu	37	7	123594569	123594569	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:123594569C>T	ENST00000340011.5	+	3	1302	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SPAM1_ENST00000223028.7_Silent_p.F315F|SPAM1_ENST00000460182.1_Silent_p.F315F|SPAM1_ENST00000402183.2_Silent_p.F315F|SPAM1_ENST00000439500.1_Silent_p.F315F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	315					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTTTGAAATTCCTTTCTCAAG	0.343000													17	7					0	0	0.006122	0	0
PTCRA	171558	broad.mit.edu	37	6	42890984	42890984	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:42890984C>T	ENST00000304672.1	+	2	359	c.278C>T	c.(277-279)tCc>tTc	p.S93F	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.S68F	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	93						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCCATCTCTCCCTGCCTTCT	0.612000													38	73					0	0	0.004289	0	0
NEURL1	9148	broad.mit.edu	37	10	105331498	105331498	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105331498T>C	ENST00000369780.4	+	3	977	c.568T>C	c.(568-570)Ttc>Ctc	p.F190L	NEURL_ENST00000369777.2_Missense_Mutation_p.F173L|NEURL_ENST00000465048.1_3'UTR	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		190	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTTATGCTGTTCTTCAGCGG	0.642000													26	34					0	0	0.008361	0	0
IFIH1	64135	broad.mit.edu	37	2	163134738	163134738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:163134738C>T	ENST00000263642.2	-	9	2137	c.1742G>A	c.(1741-1743)tGg>tAg	p.W581*		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	581					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTGAATGGCCCATTGTTCATA	0.328000													12	38					0	0	0.001368	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101574613	101574613	+	Missense_Mutation	SNP	A	A	G	rs115993928	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:101574613A>G	ENST00000326172.5	+	9	1806	c.1691A>G	c.(1690-1692)aAt>aGt	p.N564S	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N464S|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N442S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	564	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGCCCACAATGCTGTGGTC	0.443000													32	42					0	0	0.002445	0	0
KCTD14	65987	broad.mit.edu	37	11	77728170	77728170	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:77728170G>A	ENST00000353172.5	-	2	281	c.237C>T	c.(235-237)atC>atT	p.I79I	KCTD14_ENST00000533144.1_Silent_p.I49I|NDUFC2-KCTD14_ENST00000530054.1_3'UTR|NDUFC2-KCTD14_ENST00000528251.1_3'UTR	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	79	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGGGCGGTCGATGAAGAAGC	0.597000													10	37					0	0	0.008291	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981793	51981793	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51981793G>A	ENST00000451626.1	+	2	80	c.80G>A	c.(79-81)cGa>cAa	p.R27Q				A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	27						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGGAGACGAGACCGGCAG	0.652000													7	11					0	0	0.004482	0	0
HCN1	348980	broad.mit.edu	37	5	45262081	45262081	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:45262081G>A	ENST00000303230.4	-	8	2672	c.2615C>T	c.(2614-2616)tCc>tTc	p.S872F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	872						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAAGACTGAGGAAGATTCTCT	0.512000													42	112					0	0	0.002852	0	0
SUGP1	57794	broad.mit.edu	37	19	19416738	19416738	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:19416738G>A	ENST00000247001.5	-	4	805	c.458C>T	c.(457-459)cCc>cTc	p.P153L	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.P153L	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	153					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTGCGCCACGGGCAGCTGCTT	0.652000													16	42					0	0	0.004990	0	0
NLRP11	204801	broad.mit.edu	37	19	56300601	56300601	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56300601T>A	ENST00000443188.1	-	10	3388	c.2678A>T	c.(2677-2679)aAt>aTt	p.N893I	NLRP11_ENST00000589824.2_Missense_Mutation_p.N839I|NLRP11_ENST00000592953.1_Missense_Mutation_p.N794I|NLRP11_ENST00000589093.1_Missense_Mutation_p.N893I|NLRP11_ENST00000360133.3_Missense_Mutation_p.N839I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	893							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTACCCAATATTCACCAACAT	0.468000													28	51					0	0	0.006320	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324223	79324223	+	Silent	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:79324223T>C	ENST00000428286.1	-	8	3090	c.1890A>G	c.(1888-1890)ccA>ccG	p.P630P	PRUNE2_ENST00000376718.3_Silent_p.P989P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	989					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTAGCAAATGGCTTGTGTT	0.448000													23	24					0	0	0.001882	0	0
DNAH9	1770	broad.mit.edu	37	17	11671833	11671833	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11671833C>T	ENST00000262442.3	+	37	7302	c.7234C>T	c.(7234-7236)Cct>Tct	p.P2412S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2412S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2412					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAAGTTTCCTTCCCAAGG	0.498000													21	42					0	0	0.008871	0	0
SEC13	6396	broad.mit.edu	37	3	10357052	10357052	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:10357052G>A	ENST00000397117.1	-	3	666	c.75C>T	c.(73-75)atC>atT	p.I25I	SEC13_ENST00000337354.4_Silent_p.I42I|SEC13_ENST00000397109.3_Silent_p.I25I|SEC13_ENST00000350697.3_Silent_p.I39I|SEC13_ENST00000383801.2_Silent_p.I85I			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	39					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GCACATCAAAGATTTTGACGG	0.597000													11	47					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661355	176661355	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:176661355A>T	ENST00000367662.3	+	6	3689	c.2525A>T	c.(2524-2526)aAg>aTg	p.K842M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	842					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAAGCAGAAAGCCCACCCCC	0.498000													49	80					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179433173	179433173	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179433173C>T	ENST00000589042.1	-	326	77910	c.77686G>A	c.(77686-77688)Gga>Aga	p.G25896R	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16956R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23328R|TTN_ENST00000460472.2_Missense_Mutation_p.G16831R|TTN_ENST00000342175.6_Missense_Mutation_p.G17023R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24255R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24255	Fibronectin type-III 88.						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)			TTAACAGGTCCTTTTGGAGGA	0.408000													10	33					0	0	0.006214	0	0
ABCC9	10060	broad.mit.edu	37	12	21954019	21954019	+	Missense_Mutation	SNP	C	C	T	rs149722127		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:21954019C>T	ENST00000261200.4	-	38	4608	c.4609G>A	c.(4609-4611)Gaa>Aaa	p.E1537K		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1537	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E1537K(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTCCATTTTCCTGAGCCAAG	0.383000													14	36					0	0	0.003163	0	0
PADI2	11240	broad.mit.edu	37	1	17431502	17431502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:17431502C>T	ENST00000375486.4	-	2	210	c.147G>A	c.(145-147)tgG>tgA	p.W49*	PADI2_ENST00000375481.1_Nonsense_Mutation_p.W49*|PADI2_ENST00000444885.2_Nonsense_Mutation_p.W49*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	49					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCACCTCCACCCACACGTGTT	0.662000													14	26					0	0	0.003163	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136569778	136569778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:136569778C>T	ENST00000355849.5	+	5	969	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	187					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R187*(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TCCAGTGGTTCGAGGGAAACC	0.428000													32	61					0	0	0.003271	0	0
PAK7	57144	broad.mit.edu	37	20	9546683	9546683	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:9546683C>T	ENST00000378429.3	-	6	1885	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	PAK7_ENST00000378423.1_Missense_Mutation_p.E447K|PAK7_ENST00000353224.5_Missense_Mutation_p.E447K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	447	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCCAAGTATTCCCTGGGGTCT	0.582000													29	70					0	0	0.007291	0	0
LY75	4065	broad.mit.edu	37	2	160672034	160672034	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160672034G>A	ENST00000263636.4	-	31	4458	c.4431C>T	c.(4429-4431)atC>atT	p.I1477I	LY75-CD302_ENST00000505052.1_Silent_p.I1477I|LY75_ENST00000553424.1_Silent_p.I1477I|LY75-CD302_ENST00000504764.1_Silent_p.I1477I|LY75_ENST00000554112.1_Silent_p.I1477I	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTCCATGGGATATAGTCAA	0.373000													26	30					0	0	0.009535	0	0
GRK7	131890	broad.mit.edu	37	3	141497718	141497718	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:141497718G>A	ENST00000264952.2	+	1	729	c.592G>A	c.(592-594)Ggg>Agg	p.G198R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	198	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGAGTGCTGGGGAAAGGTGG	0.473000													29	72					0	0	0.003271	0	0
CEBPE	1053	broad.mit.edu	37	14	23588123	23588123	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23588123C>A	ENST00000206513.5	-	1	702	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GCTGGCTTCACGGCAAAGAGA	0.642000													23	56					6.44725e-10	7.43932e-10	0.002299	1	0
C17orf97	400566	broad.mit.edu	37	17	263022	263022	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:263022C>T	ENST00000360127.6	+	2	404	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	130										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGAGCGTGGCCCGAAACCAGA	0.517000													21	40					0	0	0.001882	0	0
TMEM163	81615	broad.mit.edu	37	2	135470837	135470837	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:135470837C>T	ENST00000281924.6	-	2	319	c.255G>A	c.(253-255)agG>agA	p.R85R		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	85						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGCCTTCTTCCTGTAGTTCT	0.502000													53	88					0	0	0.003610	0	0
OR13G1	441933	broad.mit.edu	37	1	247836033	247836033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:247836033G>A	ENST00000359688.2	-	1	332	c.311C>T	c.(310-312)tCt>tTt	p.S104F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGCTCCCAGAGACCATGTGAA	0.458000													10	29					0	0	0.001368	0	0
DDX41	51428	broad.mit.edu	37	5	176938925	176938925	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:176938925T>C	ENST00000507955.1	-	17	2259	c.1736A>G	c.(1735-1737)gAg>gGg	p.E579G		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	579					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACAGCCGCGCTCTCCTGGGGG	0.637000													4	46					0	0	0.009096	0	0
USP30	84749	broad.mit.edu	37	12	109494518	109494518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:109494518G>A	ENST00000257548.5	+	2	208	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	USP30_ENST00000392784.2_Missense_Mutation_p.G8S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	39					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GGGAGTTATAGGTGGAATTGC	0.373000													69	94					0	0	0.003610	0	0
KAT2B	8850	broad.mit.edu	37	3	20168972	20168972	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:20168972C>T	ENST00000263754.4	+	11	2135	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	560	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GTATCTGTTTCCGTATGTTCC	0.383000													27	60					0	0	0.004656	0	0
FAM171B	165215	broad.mit.edu	37	2	187626618	187626618	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:187626618G>A	ENST00000304698.5	+	8	1752	c.1549G>A	c.(1549-1551)Ggt>Agt	p.G517S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	517						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTATCTCACAGGTAATGAGGA	0.428000													10	23					0	0	0.006214	0	0
SCN10A	6336	broad.mit.edu	37	3	38763812	38763812	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38763812G>A	ENST00000449082.2	-	19	3443	c.3444C>T	c.(3442-3444)atC>atT	p.I1148I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1148					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTGCTCCACGATACGGTAGC	0.557000													27	62					0	0	0.003954	0	0
IPCEF1	26034	broad.mit.edu	37	6	154567864	154567864	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:154567864G>A	ENST00000265198.4	-	5	259	c.104C>T	c.(103-105)tCg>tTg	p.S35L	OPRM1_ENST00000337049.4_Missense_Mutation_p.R401Q|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S36L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S36L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S7L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATCTTTACACGATATCCTCCT	0.403000													26	32					0	0	0.003330	0	0
FMO3	2328	broad.mit.edu	37	1	171079953	171079953	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:171079953C>T	ENST00000367755.4	+	6	753	c.642C>T	c.(640-642)tcC>tcT	p.S214S	FMO3_ENST00000542847.1_Silent_p.S194S|FMO3_ENST00000538429.1_Silent_p.S151S|FMO3_ENST00000392085.2_Silent_p.S214S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	214					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGATCAGTTCCAGAAGTGGCT	0.463000													19	111					0	0	0.002780	0	0
DUSP14	11072	broad.mit.edu	37	17	35872918	35872918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:35872918C>T	ENST00000487847.1	+	2	1522	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	DUSP14_ENST00000394389.4_Missense_Mutation_p.P182S|DUSP14_ENST00000394386.1_Missense_Mutation_p.P182S			O95147	DUS14_HUMAN	dual specificity phosphatase 14	182							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TGGCATAGTTCCCGACGTCTA	0.562000													25	47					0	0	0.003330	0	0
NT5C2	22978	broad.mit.edu	37	10	104859732	104859732	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:104859732C>T	ENST00000343289.5	-	8	671	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.R195Q|NT5C2_ENST00000423468.2_Missense_Mutation_p.R166Q	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	195					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GAACATACTCCGGTAGGACAT	0.398000													35	45					0	0	0.005524	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496492	34496492	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:34496492C>T	ENST00000538621.1	+	4	539	c.294C>T	c.(292-294)caC>caT	p.H98H	PACSIN1_ENST00000374043.2_Silent_p.H56H|PACSIN1_ENST00000244458.2_Silent_p.H98H|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	98					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGAGCTGCACCAGGAGGTGA	0.552000													58	114					0	0	0.003610	0	0
MYH3	4621	broad.mit.edu	37	17	10532961	10532961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10532961G>A	ENST00000583535.1	-	40	5836	c.5749C>T	c.(5749-5751)Caa>Taa	p.Q1917*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q1917*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1917					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGTTGACTTGAGATTCTGCG	0.542000													38	29					0	0	0.008740	0	0
CACNA1I	8911	broad.mit.edu	37	22	40045784	40045784	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:40045784G>A	ENST00000336649.4	+	12	1864	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	CACNA1I_ENST00000407673.1_Missense_Mutation_p.D581N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D581N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D616N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D616N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D581N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	616					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ggagcaggcggaTGGGGCGGT	0.687000													3	7					0	0	0.009096	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202749	140202749	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140202749G>A	ENST00000529859.1	+	1	1389	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V463V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.V463V|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGTTCGTGAAGGAGAACA	0.662000													26	71					0	0	0.003954	0	0
RHOV	171177	broad.mit.edu	37	15	41165486	41165486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41165486C>T	ENST00000220507.4	-	3	630	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	161					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CCCTCCCGGCCCCCCTGGTCC	0.652000													21	39					0	0	0.002299	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	103903604	103903604	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:103903604C>T	ENST00000372582.1	+	2	766	c.10C>T	c.(10-12)Cca>Tca	p.P4S	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P4S	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	4					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAAGCCACCATTTCTTTT	0.393000													30	21					0	0	0.002445	0	0
MOCS2	4338	broad.mit.edu	37	5	52394491	52394491	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:52394491A>T	ENST00000396954.3	-	7	1185	c.508T>A	c.(508-510)Tac>Aac	p.Y170N	MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GACTCTTCGTATATTTCCTAA	0.279000													21	48					0	0	0.010504	0	0
CD177	57126	broad.mit.edu	37	19	43866377	43866377	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43866377G>A	ENST00000378009.4	+	0	1380				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCAGCATGAGGGAGGTGGGGC	0.612000													18	41					0	0	0.010504	0	0
ADARB1	104	broad.mit.edu	37	21	46596307	46596307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:46596307C>T	ENST00000539173.1	+	4	1126	c.691C>T	c.(691-693)Ccg>Tcg	p.P231S	ADARB1_ENST00000389863.4_Missense_Mutation_p.P231S|ADARB1_ENST00000348831.4_Missense_Mutation_p.P231S|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Missense_Mutation_p.P231S	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	231	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATTCCCACCCCCGAGTGGGAA	0.597000													23	45					0	0	0.003330	0	0
UBR1	197131	broad.mit.edu	37	15	43269040	43269040	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:43269040G>A	ENST00000290650.4	-	39	4322	c.4244C>T	c.(4243-4245)tCc>tTc	p.S1415F	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1415					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCAATACAAGGATGGGAATGC	0.383000													6	13					0	0	0.001984	0	0
TNR	7143	broad.mit.edu	37	1	175355175	175355175	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:175355175G>A	ENST00000367674.1	-	8	2478	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TNR_ENST00000263525.2_Silent_p.F590F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	590	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TACCTGTTGTGAACTGAGTGG	0.592000													35	48					0	0	0.006999	0	0
DMWD	1762	broad.mit.edu	37	19	46289715	46289715	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46289715C>T	ENST00000270223.6	-	3	1084	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	DMWD_ENST00000377735.3_Missense_Mutation_p.D347N	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	347					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACCAGGTCATCTTCGCCACCC	0.642000													22	66					0	0	0.003954	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19698860	19698860	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:19698860C>T	ENST00000284885.3	-	16	1843	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	604	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAGAACACATCCTTTACTGGG	0.443000													22	57					0	0	0.003330	0	0
LILRB1	10859	broad.mit.edu	37	19	55143641	55143641	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55143641C>T	ENST00000396331.1	+	6	971	c.614C>T	c.(613-615)cCc>cTc	p.P205L	LILRB1_ENST00000324602.7_Missense_Mutation_p.P205L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCGAACTCTCCCTATGAGTGG	0.607000										HNSCC(37;0.09)			33	117					0	0	0.003755	0	0
SUPT16H	11198	broad.mit.edu	37	14	21838552	21838552	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21838552G>A	ENST00000216297.2	-	4	764	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	142					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACTCTCCAGGGAATTTGTCTT	0.378000													48	136					0	0	0.003610	0	0
CLVS1	157807	broad.mit.edu	37	8	62412056	62412056	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:62412056G>A	ENST00000519846.1	+	7	1492	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	CLVS1_ENST00000325897.4_Silent_p.E340E|CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000518592.1_Silent_p.E61E			Q8IUQ0	CLVS1_HUMAN	clavesin 1	340					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AACATGAGGAGAAGGGAGAGA	0.507000													14	45					0	0	0.004007	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361463	70361463	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:70361463T>C	ENST00000305107.6	-	1	163	c.117A>G	c.(115-117)atA>atG	p.I39M	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.I39M	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	39					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GGATTGTCTTTATATTCATCC	0.468000													63	85					0	0	0.003610	0	0
FAM193B	54540	broad.mit.edu	37	5	176958471	176958471	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:176958471G>A	ENST00000443375.2	-	7	2546	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	426										kidney(1)|large_intestine(3)	4						AGCCTCGAGCGGAGCTTCTCC	0.692000													10	8					0	0	0.001855	0	0
FSTL5	56884	broad.mit.edu	37	4	162402207	162402207	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:162402207G>A	ENST00000306100.5	-	13	2009	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	FSTL5_ENST00000427802.2_Missense_Mutation_p.L515F|FSTL5_ENST00000379164.4_Missense_Mutation_p.L524F|FSTL5_ENST00000536695.1_Missense_Mutation_p.L524F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	525						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAACAATAAGGACTCTGTCC	0.343000													45	66					0	0	0.002852	0	0
MYH7	4625	broad.mit.edu	37	14	23886806	23886806	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23886806C>T	ENST00000355349.3	-	31	4421	c.4259G>A	c.(4258-4260)cGg>cAg	p.R1420Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1420			R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATTCTGTAGCCGGTGCTTGGT	0.602000													35	78					0	0	0.004878	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83371240	83371240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:83371240C>T	ENST00000262752.2	-	12	1012	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.W335*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	335	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AACTTACATCCCAGTCAATAT	0.254000													5	11					0	0	0.001168	0	0
MCTP1	79772	broad.mit.edu	37	5	94353134	94353134	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:94353134C>T	ENST00000515393.1	-	2	774	c.775G>A	c.(775-777)Gga>Aga	p.G259R	MCTP1_ENST00000429576.2_Missense_Mutation_p.G38R|MCTP1_ENST00000505208.1_Missense_Mutation_p.G38R|MCTP1_ENST00000312216.8_Missense_Mutation_p.G38R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	259	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G259*(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGGTACATTCCGGGATCAGCC	0.378000													23	68					0	0	0.003330	0	0
GPR15	2838	broad.mit.edu	37	3	98251496	98251496	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:98251496C>T	ENST00000284311.3	+	1	754	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	207						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTTTTTTGTCCCTTTGTTGAG	0.428000													24	82					0	0	0.003330	0	0
DSG1	1828	broad.mit.edu	37	18	28914018	28914018	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28914018T>A	ENST00000257192.4	+	8	1070	c.858T>A	c.(856-858)aaT>aaA	p.N286K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	286	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAAATTCAAATTTGCTCGAGA	0.343000													33	75					0	0	0.003755	0	0
MUC17	140453	broad.mit.edu	37	7	100675865	100675865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100675865G>A	ENST00000306151.4	+	3	1232	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	390	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)					AACTCTTAGTGAAGGAAGCAC	0.458000													123	162					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13876922	13876922	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13876922G>A	ENST00000265104.4	-	22	3371	c.3267C>T	c.(3265-3267)acC>acT	p.T1089T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1089	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTATCTCCAAGGTATCTAAAA	0.328000									Kartagener syndrome				18	53					0	0	0.006122	0	0
KMT2B	9757	broad.mit.edu	37	19	36223782	36223782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36223782C>T	ENST00000420124.1	+	28	6332	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S2111L																							GACCTGCCATCGGAAATTGTG	0.667000													4	21					0	0	0.000602	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080330	40080330	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:40080330G>A	ENST00000336649.4	+	39	5872	c.5872G>A	c.(5872-5874)Gat>Aat	p.D1958N	CACNA1I_ENST00000407673.1_Missense_Mutation_p.D1917N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D1917N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D1952N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D1952N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D1917N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1952					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTTCTCCCCGGATGCCTCCAG	0.637000													8	14					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13923478	13923478	+	Missense_Mutation	SNP	C	C	T	rs116128702	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13923478C>T	ENST00000265104.4	-	4	453	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448000									Kartagener syndrome				60	87					0	0	0.003610	0	0
NXPE1	120400	broad.mit.edu	37	11	114393812	114393812	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:114393812C>T	ENST00000536271.1	-	3	1288	c.43_splice	c.e3-1	p.K15_splice	NXPE1_ENST00000251921.2_Splice_Site_p.K157_splice|NXPE1_ENST00000424269.1_Splice_Site_p.K299_splice					neurexophilin and PC-esterase domain family, member 1																		TTTTTTCTCTCTCTGGTAACA	0.398000													4	14					0	0	0.009096	0	0
LPHN3	23284	broad.mit.edu	37	4	62813953	62813953	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:62813953C>T	ENST00000512091.1	+	16	3307	c.2560C>T	c.(2560-2562)Cta>Tta	p.L854L	LPHN3_ENST00000508946.1_Silent_p.L854L|LPHN3_ENST00000506700.1_Silent_p.L854L|LPHN3_ENST00000504896.1_Silent_p.L854L|LPHN3_ENST00000509896.1_Silent_p.L922L|LPHN3_ENST00000506720.1_Silent_p.L922L|LPHN3_ENST00000506746.1_Silent_p.L922L|LPHN3_ENST00000514157.1_Silent_p.L854L|LPHN3_ENST00000511324.1_Silent_p.L922L|LPHN3_ENST00000514996.1_Silent_p.L854L|LPHN3_ENST00000508693.1_Silent_p.L922L|LPHN3_ENST00000514591.1_Silent_p.L854L|LPHN3_ENST00000507164.1_Silent_p.L922L|LPHN3_ENST00000545650.1_Silent_p.L854L|LPHN3_ENST00000507625.1_Silent_p.L922L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	841					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			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						TTGTAACCACCTAACAAATTT	0.373000													12	20					0	0	0.001855	0	0
LLGL1	3996	broad.mit.edu	37	17	18138301	18138301	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:18138301G>A	ENST00000316843.4	+	9	1150	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	352					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACACGGCCCGAGGATGGTGC	0.612000													8	14					0	0	0.004482	0	0
PAPPA	5069	broad.mit.edu	37	9	118997908	118997908	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:118997908C>T	ENST00000328252.3	+	7	3093	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	908					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATAGGAAATTCGTAGACATGT	0.517000													26	52					0	0	0.008361	0	0
C1orf101	257044	broad.mit.edu	37	1	244724036	244724036	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:244724036C>T	ENST00000366534.4	+	10	1150	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F	C1orf101_ENST00000366533.4_Missense_Mutation_p.L366F|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.L215F	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	366						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCCATTCTTCTTAAGTTTGC	0.393000													18	24					0	0	0.006122	0	0
ECE2	9718	broad.mit.edu	37	3	184001643	184001643	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:184001643G>A	ENST00000402825.3	+	8	1241	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	ECE2_ENST00000357474.5_Missense_Mutation_p.R342K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R267K|ECE2_ENST00000404464.3_Missense_Mutation_p.R296K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	414	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTCCACGAGGGAGCAGATG	0.612000													20	26					0	0	0.007413	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798379	69798379	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69798379G>A	ENST00000251566.4	-	3	993	c.963C>T	c.(961-963)atC>atT	p.I321I	UGT2A3_ENST00000420231.2_Silent_p.I32I	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	321						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGAAGCAATGATATTAGCCT	0.403000													47	91					0	0	0.003610	0	0
OSM	5008	broad.mit.edu	37	22	30660329	30660329	+	Missense_Mutation	SNP	G	G	A	rs144672631		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30660329G>A	ENST00000215781.2	-	3	342	c.302C>T	c.(301-303)gCc>gTc	p.A101V	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Missense_Mutation_p.A80V	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	101					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCCCAGTGTGGCATTGAGGGT	0.652000													11	21					0	0	0.000978	0	0
NAIP	4671	broad.mit.edu	37	5	70308419	70308419	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:70308419G>A	ENST00000517649.1	-	4	614	c.324C>T	c.(322-324)ggC>ggT	p.G108G	NAIP_ENST00000508426.2_Silent_p.G108G|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.G108G|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	108					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTCTCGTGAGGCCGGCACCAA	0.498000													23	42					0	0	0.003330	0	0
TRPM2	7226	broad.mit.edu	37	21	45795894	45795894	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45795894G>A	ENST00000397928.1	+	6	1395	c.950G>A	c.(949-951)gGa>gAa	p.G317E	TRPM2_ENST00000300481.9_Missense_Mutation_p.G317E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.G317E|TRPM2_ENST00000397932.2_Missense_Mutation_p.G317E	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	317						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AAGGAAAGAGGAGGTAGGGGA	0.587000													20	35					0	0	0.010504	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537777	27537777	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:27537777C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AATATAGTTTCCTTGGAAATT	0.408000													38	90					0	0	0.006230	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396887	38396887	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:38396887G>A	ENST00000377698.3	+	2	1295	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	381					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAGAAGGAGGGCGCAAAACTC	0.567000													22	24					0	0	0.003330	0	0
BDP1	55814	broad.mit.edu	37	5	70805966	70805966	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:70805966G>A	ENST00000358731.4	+	17	3310	c.3047G>A	c.(3046-3048)gGa>gAa	p.G1016E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1016	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACGCAACTGGAAGAGAGAGT	0.428000													26	60					0	0	0.007291	0	0
CDK17	5128	broad.mit.edu	37	12	96728504	96728504	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:96728504C>T	ENST00000261211.3	-	2	714	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CDK17_ENST00000543119.2_Silent_p.K37K|CDK17_ENST00000542666.1_Intron	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	37							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TACCATTATCCTTGCTGCTGT	0.343000													37	40					0	0	0.007835	0	0
DSE	29940	broad.mit.edu	37	6	116720492	116720492	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:116720492G>A	ENST00000331677.3	+	3	523	c.79G>A	c.(79-81)Gag>Aag	p.E27K	DSE_ENST00000359564.2_Missense_Mutation_p.E27K|DSE_ENST00000537543.1_Missense_Mutation_p.E46K|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.E27K			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	27					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CATCACCGACGAGAACCCAGA	0.522000													24	59					0	0	0.003330	0	0
FILIP1	27145	broad.mit.edu	37	6	76024394	76024394	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:76024394T>G	ENST00000393004.2	-	5	1375	c.1154A>C	c.(1153-1155)aAg>aCg	p.K385T	FILIP1_ENST00000237172.7_Missense_Mutation_p.K385T|FILIP1_ENST00000370020.1_Missense_Mutation_p.K286T|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	385										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAGCACACGCTTTCGAAGATT	0.423000													5	154					0	0	0.000602	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212371	149212371	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:149212371G>A	ENST00000309241.5	+	5	767	c.735G>A	c.(733-735)aaG>aaA	p.K245K	PPARGC1B_ENST00000394320.3_Silent_p.K245K|PPARGC1B_ENST00000403750.1_Silent_p.K181K|PPARGC1B_ENST00000360453.4_Silent_p.K206K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	245					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCCCTGCCAAGGAGGACAAGG	0.677000													17	50					0	0	0.004990	0	0
RYR2	6262	broad.mit.edu	37	1	237811866	237811866	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:237811866G>A	ENST00000366574.2	+	49	7782	c.7465G>A	c.(7465-7467)Gag>Aag	p.E2489K	RYR2_ENST00000542537.1_Missense_Mutation_p.E2473K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2487K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2489	4 X approximate repeats.				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)			CCATCTTCTTGAGGTTGGCTT	0.512000													5	14					0	0	0.001168	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454988	84454988	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:84454988C>T	ENST00000377084.2	-	1	1540	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	219	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGAGCAGATCACAGGTGCAG	0.547000													25	34					0	0	0.003954	0	0
UBR3	130507	broad.mit.edu	37	2	170917924	170917924	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:170917924C>T	ENST00000272793.5	+	35	5040	c.4990C>T	c.(4990-4992)Ctt>Ttt	p.L1664F	UBR3_ENST00000392631.1_Missense_Mutation_p.L485F|UBR3_ENST00000418381.1_Missense_Mutation_p.L1664F			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1664					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCAGCACCACCTTTTTGGGGA	0.428000													42	94					0	0	0.003214	0	0
OR1J1	347168	broad.mit.edu	37	9	125239481	125239481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125239481C>T	ENST00000259357.2	-	1	754	c.725G>A	c.(724-726)gGa>gAa	p.G242E		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGGTGGGATCCACAAGTGGA	0.458000													29	17					0	0	0.007291	0	0
SCN2A	6326	broad.mit.edu	37	2	166172039	166172039	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166172039G>A	ENST00000357398.3	+	11	1732	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	SCN2A_ENST00000375437.2_Missense_Mutation_p.G481E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G481E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G481E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	481					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTGGGATAGGAGTTTTTTCA	0.423000													29	72					0	0	0.009535	0	0
PLCE1	51196	broad.mit.edu	37	10	95790885	95790885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:95790885G>A	ENST00000260766.3	+	2	716	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	PLCE1_ENST00000371380.2_Missense_Mutation_p.E28K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	28					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGCTGCAGATGAAAGTAGTGA	0.423000													15	19					0	0	0.003163	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220107	79220107	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:79220107G>A	ENST00000374759.3	-	16	2992	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	870					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCGCTCCTCTGGGCCCCCGGC	0.667000													41	61					0	0	0.002852	0	0
PARP1	142	broad.mit.edu	37	1	226566910	226566910	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:226566910C>T	ENST00000366794.5	-	12	1821	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	560					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ACGATGTCCACCAGGCCAAGG	0.527000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					20	99					0	0	0.008871	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049436	36049436	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:36049436G>A	ENST00000282507.3	-	4	499	c.398C>T	c.(397-399)tCc>tTc	p.S133F	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S99F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	133						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCTTTAAGGAATCCATGAT	0.348000													16	33					0	0	0.003163	0	0
TRANK1	9881	broad.mit.edu	37	3	36874141	36874141	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:36874141G>A	ENST00000429976.2	-	21	7048	c.6801C>T	c.(6799-6801)atC>atT	p.I2267I	TRANK1_ENST00000428977.2_Silent_p.I1717I|TRANK1_ENST00000301807.6_Silent_p.I1717I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2267					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACAGAAAGTGGATGTACTCCT	0.468000													25	61					0	0	0.003954	0	0
DCAF13	25879	broad.mit.edu	37	8	104427557	104427557	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:104427557C>T	ENST00000297579.5	+	1	616	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCCGCCGCTCCGCGAGTCACG	0.637000													18	36					0	0	0.004990	0	0
CSMD2	114784	broad.mit.edu	37	1	34038122	34038122	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:34038122G>A	ENST00000373381.4	-	50	7922	c.7746C>T	c.(7744-7746)gtC>gtT	p.V2582V		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2584	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGTGGTGGGACATTGCGGT	0.587000													37	97					0	0	0.004289	0	0
JMJD4	65094	broad.mit.edu	37	1	227920378	227920378	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:227920378C>T	ENST00000366758.3	-	6	1107		c.e6-1		SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_Splice_Site|JMJD4_ENST00000438896.2_Splice_Site	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TCATGATGACCTGGGCAGAGG	0.572000													11	18					0	0	0.000978	0	0
ARMC4	55130	broad.mit.edu	37	10	28270487	28270487	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:28270487C>G	ENST00000305242.5	-	7	936	c.844G>C	c.(844-846)Gtt>Ctt	p.V282L	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.V139L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	282							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCATAATTAACGTCCCCTTCA	0.294000													35	110					0	0	0.008740	0	0
OR2M2	391194	broad.mit.edu	37	1	248343642	248343642	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248343642G>T	ENST00000359682.2	+	1	355	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTGTTATGGCTTATGACCG	0.418000													47	188					2.13384e-23	2.47881e-23	0.003610	1	0
DMXL2	23312	broad.mit.edu	37	15	51766543	51766543	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:51766543G>A	ENST00000251076.5	-	28	7495	c.7208C>T	c.(7207-7209)tCa>tTa	p.S2403L	DMXL2_ENST00000543779.2_Missense_Mutation_p.S2404L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1767L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2403						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TATCTTACCTGAAATATTTTC	0.328000													20	46					0	0	0.010504	0	0
FRAS1	80144	broad.mit.edu	37	4	79258883	79258883	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:79258883C>T	ENST00000264895.6	+	20	2774	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	FRAS1_ENST00000325942.6_Silent_p.S778S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	778					cell communication	integral to membrane|plasma membrane	metal ion binding			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						ACTGCATCTCCTGTTACCCTC	0.537000													36	133					0	0	0.004289	0	0
WASH6P	653440	broad.mit.edu	37	X	155252770	155252770	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155252770G>A	ENST00000285718.7	+	0	721				WASH6P_ENST00000461007.1_RNA																							CATTGCCAACGACCTCATGTA	0.607000													9	11					0	0	0.004482	0	0
TIGD3	220359	broad.mit.edu	37	11	65123718	65123718	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:65123718C>T	ENST00000309880.5	+	2	646	c.439C>T	c.(439-441)Cct>Tct	p.P147S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	147					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TTCATTCCCCCCTGAGCCACC	0.617000													36	79					0	0	0.004289	0	0
ZNF131	7690	broad.mit.edu	37	5	43174766	43174766	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:43174766C>T	ENST00000509634.1	+	7	1757	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	ZNF131_ENST00000306938.4_Missense_Mutation_p.S434L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S434L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S468L|ZNF131_ENST00000399534.1_Missense_Mutation_p.S468L|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CCTGTAACATCAATGACTATT	0.428000													27	55					0	0	0.007291	0	0
PACS2	23241	broad.mit.edu	37	14	105848902	105848902	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:105848902C>T	ENST00000447393.1	+	14	1677	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L	PACS2_ENST00000458164.2_Missense_Mutation_p.S501L|PACS2_ENST00000325438.8_Missense_Mutation_p.S497L|PACS2_ENST00000430725.2_Missense_Mutation_p.S422L|PACS2_ENST00000547217.1_Missense_Mutation_p.S467L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	497					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GTCAACACCTCGGACTGGCAG	0.582000													43	76					0	0	0.002852	0	0
CACNA1C	775	broad.mit.edu	37	12	2595388	2595388	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:2595388G>A	ENST00000399655.1	+	6	1141	c.876G>A	c.(874-876)ggG>ggA	p.G292G	CACNA1C_ENST00000399649.1_Silent_p.G292G|CACNA1C_ENST00000402845.3_Silent_p.G292G|CACNA1C_ENST00000399603.1_Silent_p.G292G|CACNA1C_ENST00000406454.3_Silent_p.G292G|CACNA1C_ENST00000399606.1_Silent_p.G292G|CACNA1C_ENST00000399601.1_Silent_p.G292G|CACNA1C_ENST00000335762.5_Silent_p.G292G|CACNA1C_ENST00000327702.7_Silent_p.G292G|CACNA1C_ENST00000399629.1_Silent_p.G292G|CACNA1C_ENST00000399621.1_Silent_p.G292G|CACNA1C_ENST00000399597.1_Silent_p.G292G|CACNA1C_ENST00000480911.1_Silent_p.G292G|CACNA1C_ENST00000399591.1_Silent_p.G292G|CACNA1C_ENST00000399634.1_Silent_p.G292G|CACNA1C_ENST00000399595.1_Silent_p.G292G|CACNA1C_ENST00000399638.1_Silent_p.G292G|CACNA1C_ENST00000399637.1_Silent_p.G292G|CACNA1C_ENST00000399617.1_Silent_p.G292G|CACNA1C_ENST00000344100.3_Silent_p.G292G|CACNA1C_ENST00000399641.1_Silent_p.G292G|CACNA1C_ENST00000399644.1_Silent_p.G292G|CACNA1C_ENST00000347598.4_Silent_p.G292G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	292					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTTCATGGGGAAGATGCACA	0.577000													20	48					0	0	0.010504	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489461	20489461	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:20489461C>T	ENST00000555186.1	+	0	449					NR_038836.1																						AACACAACTTCATTCCTAAAG	0.428000													6	54					0	0	0.003080	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790090	6790090	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:6790090G>A	ENST00000338569.2	-	1	196	c.99C>T	c.(97-99)atC>atT	p.I33I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATGTATAGGATTGTAAATG	0.537000													32	47					0	0	0.009535	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11374277	11374277	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:11374277G>C	ENST00000528848.2	-	1	627	c.390C>G	c.(388-390)gaC>gaG	p.D130E	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		GAATATCATAGTCTGTTAACG	0.423000													38	69					0	0	0.004878	0	0
LTF	4057	broad.mit.edu	37	3	46485071	46485071	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:46485071C>T	ENST00000231751.4	-	13	1811	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	LTF_ENST00000417439.1_Missense_Mutation_p.E504K|LTF_ENST00000426532.2_Missense_Mutation_p.E462K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	506	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)	CTGAAATATTCATCTGGAGAG	0.502000													40	114					0	0	0.003214	0	0
CCDC15	80071	broad.mit.edu	37	11	124857470	124857470	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:124857470C>T	ENST00000529051.1	+	8	1607	c.1348C>T	c.(1348-1350)Cta>Tta	p.L450L	CCDC15_ENST00000344762.5_Silent_p.L450L			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	450				L -> P (in Ref. 3; BAB14504).		centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCAGGACTTCCTACCCAGAGA	0.408000													29	64					0	0	0.006320	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:105405031C>T	ENST00000351513.2	-	8	1556	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000													58	105					0	0	0.003610	0	0
AVPR1B	553	broad.mit.edu	37	1	206224958	206224958	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:206224958C>T	ENST00000367126.4	+	1	983	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652000													21	39					0	0	0.002780	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432784	126432784	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:126432784A>T	ENST00000525144.2	-	2	328	c.79T>A	c.(79-81)Tgc>Agc	p.C27S	KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.C27S|KIRREL3_ENST00000525704.2_Missense_Mutation_p.C27S|KIRREL3-AS1_ENST00000548204.1_RNA	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	27					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ACCAGACAGCATCCTCTCTTC	0.567000													13	37					0	0	0.003163	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735150	110735150	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110735150T>C	ENST00000331565.4	+	8	1614	c.1129T>C	c.(1129-1131)Tac>Cac	p.Y377H		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	377					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AATCCTAGGGTACCTTAACAC	0.542000													16	18					0	0	0.006122	0	0
RNF152	220441	broad.mit.edu	37	18	59483483	59483483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:59483483C>T	ENST00000312828.3	-	2	1313	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	72					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACCTCCGGGTCGTCCGGGAGC	0.637000													5	25					0	0	0.000602	0	0
RPRD2	23248	broad.mit.edu	37	1	150444353	150444353	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:150444353C>A	ENST00000401000.4	+	10	2916	c.2851C>A	c.(2851-2853)Ccg>Acg	p.P951T	RPRD2_ENST00000369068.4_Missense_Mutation_p.P977T|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	977							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTTTTCTCTCCGCAGAACAC	0.552000													95	177					1.22797e-34	1.42756e-34	0.003610	1	0
ENPP1	5167	broad.mit.edu	37	6	132173319	132173319	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:132173319G>A	ENST00000360971.2	+	5	581	c.561G>A	c.(559-561)gaG>gaA	p.E187E		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	187	SMB 2.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTTAGGTGAGAAAAGTTGGG	0.318000													31	51					0	0	0.003755	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145872	170145872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:170145872C>T	ENST00000328939.4	+	2	709	c.172C>T	c.(172-174)Cga>Tga	p.R58*	KCNIP1_ENST00000520740.1_Nonsense_Mutation_p.R30*|KCNIP1_ENST00000390656.4_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000377360.4_Nonsense_Mutation_p.R67*|KCNIP1_ENST00000434108.1_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000411494.1_Nonsense_Mutation_p.R69*	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	69	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.R69*(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCTTTATCGAGGCTTCAA	0.587000													14	58					0	0	0.002450	0	0
SAGE1	55511	broad.mit.edu	37	X	134990694	134990694	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:134990694G>A	ENST00000535938.1	+	12	1526	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.Q453Q|SAGE1_ENST00000324447.3_Silent_p.Q453Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	453										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AACGAAAACAGGATAACGTCT	0.418000													47	21					0	0	0.002522	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996122	43996122	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:43996122C>T	ENST00000262726.7	-	23	2956	c.2703G>A	c.(2701-2703)ggG>ggA	p.G901G	EFCAB6_ENST00000396231.2_Silent_p.G749G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	901	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGTAATGTGCCCTTTTCCCT	0.423000													62	128					0	0	0.003610	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741262	140741262	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140741262C>T	ENST00000522605.1	+	1	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGCCTTCGATCATGAGC	0.662000													16	41					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478830	110478830	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:110478830C>T	ENST00000378402.5	+	50	8541	c.8437C>T	c.(8437-8439)Cca>Tca	p.P2813S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2813					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCGTCATTCCACACAGCTC	0.408000										HNSCC(38;0.096)			5	14					0	0	0.000602	0	0
RALGAPB	57148	broad.mit.edu	37	20	37168506	37168506	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:37168506C>T	ENST00000262879.6	+	17	2751	c.2467C>T	c.(2467-2469)Cct>Tct	p.P823S	RALGAPB_ENST00000397042.3_Missense_Mutation_p.P819S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P601S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P823S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	823					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGGCCAGCTCCTTTACACTC	0.488000													21	73					0	0	0.002780	0	0
KCNH7	90134	broad.mit.edu	37	2	163302698	163302698	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:163302698A>T	ENST00000332142.5	-	7	1483	c.1384T>A	c.(1384-1386)Ttt>Att	p.F462I	KCNH7_ENST00000328032.4_Missense_Mutation_p.F455I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	462					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTATGATAAACATAATATCC	0.363000													16	28					0	0	0.004007	0	0
CDH4	1002	broad.mit.edu	37	20	60348170	60348170	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:60348170G>A	ENST00000360469.5	+	4	596	c.508G>A	c.(508-510)Gac>Aac	p.D170N	CDH4_ENST00000543233.1_Missense_Mutation_p.D96N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	170	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGCAAACGGGACTGGGTCAT	0.701000													13	20					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179595373	179595373	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179595373C>T	ENST00000589042.1	-	61	18111	c.17887G>A	c.(17887-17889)Gaa>Aaa	p.E5963K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4719K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5646K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5646	Ig-like 40.						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)			TTGTACTTTTCACTAGCTGAT	0.398000													39	66					0	0	0.005524	0	0
SPAG8	26206	broad.mit.edu	37	9	35811981	35811981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:35811981G>A	ENST00000340291.2	-	2	186	c.62C>T	c.(61-63)cCc>cTc	p.P21L	SPAG8_ENST00000396638.2_Missense_Mutation_p.P21L|SPAG8_ENST00000484764.1_Missense_Mutation_p.P19L	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	21						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TTCGGAGCTGGGCTGTATGTC	0.572000													22	26					0	0	0.001882	0	0
ACACA	31	broad.mit.edu	37	17	35470112	35470112	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:35470112G>A	ENST00000353139.5	-	51	6844	c.6363C>T	c.(6361-6363)ccC>ccT	p.P2121P	ACACA_ENST00000335166.5_Silent_p.P2006P|ACACA_ENST00000361253.5_Silent_p.P210P|ACACA_ENST00000394406.2_Silent_p.P2084P|ACACA_ENST00000360679.3_Silent_p.P2026P	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2084	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCTCAGCCTGGGGAGGAATGT	0.552000													8	33					0	0	0.006214	0	0
OR13D1	286365	broad.mit.edu	37	9	107457290	107457290	+	Missense_Mutation	SNP	G	G	A	rs149708960		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:107457290G>A	ENST00000318763.5	+	1	631	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTCTGACAATGATGTTGCCTT	0.418000													39	47					0	0	0.006999	0	0
PCSK5	5125	broad.mit.edu	37	9	78911753	78911753	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:78911753G>A	ENST00000545128.1	+	27	4033	c.3495G>A	c.(3493-3495)aaG>aaA	p.K1165K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	876					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGCCACCAAGACCCAGGAGG	0.577000													35	49					0	0	0.007835	0	0
BMPR1A	657	broad.mit.edu	37	10	88683459	88683459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:88683459C>T	ENST00000372037.2	+	13	2119	c.1582C>T	c.(1582-1584)Caa>Taa	p.Q528*		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	528					BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGTTGAATCCCAAGATGTAAA	0.438000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				15	21					0	0	0.004990	0	0
CACNG5	27091	broad.mit.edu	37	17	64881232	64881232	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:64881232G>A	ENST00000533854.1	+	6	940	c.703G>A	c.(703-705)Gac>Aac	p.D235N	CACNG5_ENST00000307139.3_Missense_Mutation_p.D235N			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	235				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTACACCCAGACGCCTGGGT	0.637000													11	39					0	0	0.000978	0	0
AACS	65985	broad.mit.edu	37	12	125570980	125570980	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:125570980C>T	ENST00000316519.6	+	4	669	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	AACS_ENST00000261686.6_Missense_Mutation_p.R155W	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	155					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAAAGGAGATCGGGTTGTTGG	0.468000													23	30					0	0	0.002299	0	0
PCSK6	5046	broad.mit.edu	37	15	101905247	101905247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:101905247C>T	ENST00000344273.2	-	15	1857	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	PCSK6_ENST00000398181.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000331826.7_Missense_Mutation_p.D455N|PCSK6_ENST00000348070.1_Intron	NM_138324.1	NP_612197.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	621	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			gtctcaagatcacctaatggg	0.413000													36	28					0	0	0.006999	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723340	58723340	+	Missense_Mutation	SNP	G	G	A	rs145479301	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58723340G>A	ENST00000300079.5	+	7	892	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R250Q|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	250						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GTGATGGTGCGATACATGAAA	0.453000													15	31					0	0	0.004007	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966440	58966440	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58966440C>T	ENST00000391696.1	+	3	1031	c.99C>T	c.(97-99)ttC>ttT	p.F33F	ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	184	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCTTCTTTTTCCCTAAGCTTT	0.612000													4	10					0	0	0.009096	0	0
NEB	4703	broad.mit.edu	37	2	152492816	152492816	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152492816C>T	ENST00000427231.2	-	64	9229	c.9027G>A	c.(9025-9027)aaG>aaA	p.K3009K	NEB_ENST00000603639.1_Silent_p.K3009K|NEB_ENST00000604864.1_Silent_p.K3009K|NEB_ENST00000172853.10_Intron|NEB_ENST00000397345.3_Silent_p.K3009K|NEB_ENST00000409198.1_Intron	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3009					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCCTTTCTTCTTTGCTTCTT	0.438000													6	21					0	0	0.001984	0	0
DOK2	9046	broad.mit.edu	37	8	21767128	21767128	+	Silent	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:21767128C>A	ENST00000276420.4	-	5	1191	c.933G>T	c.(931-933)ggG>ggT	p.G311G	DOK2_ENST00000544659.1_Silent_p.G157G	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	311					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAAGTTCTTCCCCAAGGAAC	0.657000													35	60					1.69901e-12	1.96484e-12	0.005524	1	0
DNAH8	1769	broad.mit.edu	37	6	38980349	38980349	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:38980349T>A	ENST00000359357.3	+	89	13253	c.12999T>A	c.(12997-12999)ttT>ttA	p.F4333L	DNAH8_ENST00000441566.1_Missense_Mutation_p.F4297L					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						ATGCTCAGTTTTCTACGTGGA	0.433000													60	138					0	0	0.003610	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691497	68691497	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:68691497C>T	ENST00000283916.6	-	9	1146	c.1048G>A	c.(1048-1050)Gga>Aga	p.G350R	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G233R	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	350	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CACAGCATTCCAGACAAGATG	0.443000													22	28					0	0	0.001882	0	0
DYRK2	8445	broad.mit.edu	37	12	68051584	68051584	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:68051584G>A	ENST00000344096.3	+	3	1310	c.897G>A	c.(895-897)atG>atA	p.M299I	DYRK2_ENST00000393555.3_Missense_Mutation_p.M226I	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	299	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACATCTGCATGACGTTTGAGC	0.473000													57	2873					0	0	0.007413	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257550	134257550	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:134257550G>A	ENST00000524765.1	-	2	4548	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	B3GAT1_ENST00000537389.1_Missense_Mutation_p.P15S|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P2S|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P2S			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	2					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCTCTTCGGCATCTCCAAG	0.642000													12	24					0	0	0.000978	0	0
PURA	5813	broad.mit.edu	37	5	139494086	139494086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139494086C>T	ENST00000331327.3	+	1	379	c.320C>T	c.(319-321)gCc>gTc	p.A107V		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	107					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCAGTGGCCGTGGAGTTC	0.682000													4	16					0	0	0.009096	0	0
AKAP3	10566	broad.mit.edu	37	12	4737061	4737061	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4737061G>A	ENST00000545990.2	-	5	1531	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S336F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	336					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CCTCAAGAAGGAGTCGATGAG	0.483000													18	33					0	0	0.006122	0	0
TET2	54790	broad.mit.edu	37	4	106155145	106155145	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:106155145C>T	ENST00000540549.1	+	3	906	c.46C>T	c.(46-48)Cca>Tca	p.P16S	TET2_ENST00000380013.4_Missense_Mutation_p.P16S|TET2_ENST00000413648.2_Missense_Mutation_p.P16S|TET2_ENST00000305737.2_Missense_Mutation_p.P16S|TET2_ENST00000394764.1_Missense_Mutation_p.P16S|TET2_ENST00000513237.1_Missense_Mutation_p.P37S|TET2_ENST00000545826.1_Missense_Mutation_p.P16S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	16					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGACTAAGTCCATTCCTGAT	0.502000			"""Mis N, F"""		MDS								8	27					0	0	0.003080	0	0
OSBPL5	114879	broad.mit.edu	37	11	3121463	3121463	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:3121463C>T	ENST00000263650.7	-	14	1705	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	OSBPL5_ENST00000348039.5_Missense_Mutation_p.D448N|OSBPL5_ENST00000542243.1_Missense_Mutation_p.D147N|OSBPL5_ENST00000389989.3_Missense_Mutation_p.D448N|OSBPL5_ENST00000525498.1_Missense_Mutation_p.D427N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	516					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTTTGCCGTCCAGCAGCGCC	0.607000													11	24					0	0	0.001855	0	0
TPTE	7179	broad.mit.edu	37	21	10908892	10908892	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:10908892G>A	ENST00000298232.7	-	22	1766	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	TPTE_ENST00000342420.5_Missense_Mutation_p.L447F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L485F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	485	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L467I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGTAGGAAGATTCTAAAAA	0.269000													4	40					0	0	0.000602	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389063	56389063	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:56389063C>T	ENST00000355701.3	-	18	3820	c.2950G>A	c.(2950-2952)Gat>Aat	p.D984N	BZRAP1_ENST00000343736.4_Missense_Mutation_p.D984N|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D924N	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	984	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCTGCACATCCAGAGGGGCA	0.607000													10	20					0	0	0.000978	0	0
PRKACB	5567	broad.mit.edu	37	1	84662426	84662426	+	Splice_Site	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:84662426G>T	ENST00000370689.2	+	6	810		c.e6+1		PRKACB_ENST00000370682.3_Splice_Site|PRKACB_ENST00000394839.2_Splice_Site|PRKACB_ENST00000370685.3_Splice_Site|PRKACB_ENST00000370688.3_Splice_Site|PRKACB_ENST00000394838.2_Splice_Site|PRKACB_ENST00000370680.1_Splice_Site	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CTATATCCAGGTATGACTTTA	0.353000													17	23					1.67942e-08	1.93639e-08	0.006122	1	0
ZMYM6	9204	broad.mit.edu	37	1	35474514	35474514	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:35474514G>A	ENST00000357182.4	-	11	1731	c.1504C>T	c.(1504-1506)Ctc>Ttc	p.L502F	ZMYM6_ENST00000487874.1_Missense_Mutation_p.L502F|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.L502F	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	502					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CGGGCAGAGAGGAATTTGCAA	0.403000													18	56					0	0	0.007413	0	0
DSG4	147409	broad.mit.edu	37	18	28989458	28989458	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28989458G>A	ENST00000359747.4	+	13	2006	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.Q659Q	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	659					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACAGAGACAGCCAGAAGGCC	0.532000													33	102					0	0	0.003271	0	0
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	rs146552050		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:7960190C>T	ENST00000360759.3	-	1	951	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418000													14	43					0	0	0.002450	0	0
POTEE	445582	broad.mit.edu	37	2	131985849	131985849	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:131985849C>T	ENST00000356920.5	+	5	1044	c.950C>T	c.(949-951)tCa>tTa	p.S317L	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S327L|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	317							ATP binding										TGTTGTGGATCAGCAAGTATA	0.358000													26	67					0	0	0.002836	0	0
NFE2	4778	broad.mit.edu	37	12	54686780	54686780	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54686780C>T	ENST00000540264.2	-	2	1009	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	NFE2_ENST00000435572.2_Missense_Mutation_p.R167Q|NFE2_ENST00000312156.4_Missense_Mutation_p.R167Q|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R167Q			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	167	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCTGCGCCGCCGACCAGCCTC	0.557000													33	97					0	0	0.003271	0	0
CD84	8832	broad.mit.edu	37	1	160519728	160519728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160519728G>A	ENST00000368051.3	-	5	868	c.802C>T	c.(802-804)Cga>Tga	p.R268*	CD84_ENST00000368048.3_Silent_p.S311S|CD84_ENST00000368054.3_Silent_p.S300S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Silent_p.S186S|CD84_ENST00000311224.4_Silent_p.S317S	NM_001184881.1	NP_001171810.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	0					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.S300S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGCACTTCGGAATAAACTG	0.512000													8	48					0	0	0.008291	0	0
FMOD	2331	broad.mit.edu	37	1	203317141	203317141	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:203317141G>A	ENST00000354955.4	-	2	721	c.258C>T	c.(256-258)ttC>ttT	p.F86F	FMOD_ENST00000464898.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	86	Cys-rich.|LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGGCCGTGGGGAAGTTGGGTG	0.592000													5	7					0	0	0.001168	0	0
PARP14	54625	broad.mit.edu	37	3	122399887	122399887	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122399887C>T	ENST00000474629.2	+	1	423	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGCCCATCCCGCTTCCTGGT	0.657000													17	34					0	0	0.003954	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450719	105450719	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:105450719G>A	ENST00000337685.2	+	5	2079	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.E432K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E432K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	432	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATGAATTCTGAAAAGAAGGG	0.343000													21	10					0	0	0.008871	0	0
TCHH	7062	broad.mit.edu	37	1	152084928	152084928	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152084928C>T	ENST00000368804.1	-	2	764	c.765G>A	c.(763-765)aaG>aaA	p.K255K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	255					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTTCCTTCCGGAGCA	0.587000													31	162					0	0	0.009535	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077573	32077573	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:32077573C>T	ENST00000354689.6	+	0	188				RP11-1166P10.6_ENST00000566806.1_RNA																							TACGCAGACTCTGTGAAAGGC	0.517000													65	227					0	0	0.003610	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756836	49756836	+	Silent	SNP	C	C	T	rs140696690		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49756836C>T	ENST00000535833.1	-	10	3513	c.63G>A	c.(61-63)ccG>ccA	p.P21P	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.P21P			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	21					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGGAGTCCGGGGTGCCTA	0.642000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	52					0	0	0.001882	0	0
GALNT10	55568	broad.mit.edu	37	5	153709265	153709265	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153709265G>A	ENST00000297107.6	+	4	672	c.535G>A	c.(535-537)Gag>Aag	p.E179K	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.E179K|GALNT10_ENST00000377661.2_Missense_Mutation_p.E179K	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	179	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTGGTCGCCGAGATTGTACT	0.597000													12	18					0	0	0.002450	0	0
TINAG	27283	broad.mit.edu	37	6	54212204	54212204	+	Missense_Mutation	SNP	G	G	A	rs75755871	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:54212204G>A	ENST00000259782.4	+	6	884	c.788G>A	c.(787-789)cGa>cAa	p.R263Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	263					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCTAAGGGTCGATACACGGCC	0.423000													22	38					0	0	0.002780	0	0
OR10H3	26532	broad.mit.edu	37	19	15852893	15852893	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15852893C>T	ENST00000305892.1	+	1	691	c.691C>T	c.(691-693)Cct>Tct	p.P231S		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTTGAGGATTCCTTCTGCTGA	0.502000													59	128					0	0	0.003610	0	0
ITGAD	3681	broad.mit.edu	37	16	31434754	31434754	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:31434754G>A	ENST00000389202.2	+	25	2990	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	981					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCTGTGTGGGATGTGGTCAT	0.547000													31	34					0	0	0.002096	0	0
ABCB11	8647	broad.mit.edu	37	2	169788930	169788930	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:169788930C>T	ENST00000263817.6	-	24	3294	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1057					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGGGGGTTGTCGGTCCAGCAG	0.433000													3	7					0	0	0.004672	0	0
NBAS	51594	broad.mit.edu	37	2	15319127	15319127	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:15319127G>A	ENST00000281513.5	-	51	6850	c.6825C>T	c.(6823-6825)atC>atT	p.I2275I	NBAS_ENST00000441750.1_Silent_p.I2155I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2275										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGACTGCCGTGATTTGCTCCA	0.418000													15	31					0	0	0.003163	0	0
DDX46	9879	broad.mit.edu	37	5	134102645	134102645	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:134102645G>A	ENST00000452510.2	+	3	403	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	DDX46_ENST00000354283.4_Missense_Mutation_p.R82Q	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	82	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCGAGAGCGAAGAAGATCT	0.488000													12	20					0	0	0.000978	0	0
FOCAD	54914	broad.mit.edu	37	9	20862683	20862683	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:20862683C>T	ENST00000380249.1	+	18	2391	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	FOCAD_ENST00000338382.6_Missense_Mutation_p.S676F|FOCAD_ENST00000605086.1_Missense_Mutation_p.S112F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	676						integral to membrane	binding	p.S676Y(1)									CTAGTTCCTTCCTTAACGGTC	0.413000													26	46					0	0	0.003330	0	0
GTSF1	121355	broad.mit.edu	37	12	54865020	54865020	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54865020A>G	ENST00000552397.1	-	2	909	c.13T>C	c.(13-15)Tac>Cac	p.Y5H	GTSF1_ENST00000305879.5_Missense_Mutation_p.Y5H|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	5							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TACATACTGTAAGTTTCTTCC	0.338000													10	25					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179495906	179495906	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179495906C>T	ENST00000589042.1	-	237	44093	c.43869G>A	c.(43867-43869)aaG>aaA	p.K14623K	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.K5683K|TTN_ENST00000342992.6_Silent_p.K12055K|TTN_ENST00000460472.2_Silent_p.K5558K|TTN_ENST00000342175.6_Silent_p.K5750K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.K12982K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12982	Ig-like 96.						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)			GCTTTATTTCCTTCCCATCCT	0.373000													21	42					0	0	0.002780	0	0
CWC27	10283	broad.mit.edu	37	5	64267545	64267545	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:64267545C>T	ENST00000381070.3	+	12	1275	c.1058C>T	c.(1057-1059)cCa>cTa	p.P353L	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	353					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GAAGCCCCTCCAGATGGTGCT	0.403000													20	61					0	0	0.008871	0	0
NPAP1	23742	broad.mit.edu	37	15	24924009	24924009	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:24924009G>T	ENST00000329468.2	+	1	3469	c.2995G>T	c.(2995-2997)Gga>Tga	p.G999*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTACTGGTTGGAAATACTAT	0.527000													6	28					0.00116845	0.00134124	0.001168	1	0
RAD54L2	23132	broad.mit.edu	37	3	51697086	51697086	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:51697086C>T	ENST00000409535.1	+	22	4179	c.4054C>T	c.(4054-4056)Ccc>Tcc	p.P1352S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.P1046S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1352						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCAGCAGGCCCCGTCAGTTC	0.577000													29	75					0	0	0.008361	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138197164	138197164	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:138197164C>T	ENST00000237289.4	+	5	732	c.666C>T	c.(664-666)tcC>tcT	p.S222S	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	222	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AATCAGGTTCCAATTTCGCCC	0.443000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								20	62					0	0	0.002299	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433702	22433702	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22433702G>A	ENST00000390442.3	+	0	23																											TCGTGTTTAAGGTTTGAATCC	0.353000													17	26					0	0	0.007413	0	0
CCDC81	60494	broad.mit.edu	37	11	86097144	86097144	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:86097144C>T	ENST00000445632.2	+	2	403	c.131C>T	c.(130-132)aCc>aTc	p.T44I	CCDC81_ENST00000354755.1_Missense_Mutation_p.T44I|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	44										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CGGCAGTTAACCCTGCACAAG	0.289000													7	15					0	0	0.003080	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679660	160679660	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:160679660C>T	ENST00000366952.1	-	3	1548	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G44S			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	44					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGGGTGAAGCCCAGGAAGACG	0.612000													11	66					0	0	0.001368	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520099	113520099	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:113520099G>A	ENST00000284601.3	-	4	1116	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	350					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTATTTGGAAAATTGACT	0.373000													75	78					0	0	0.003610	0	0
FGA	2243	broad.mit.edu	37	4	155507206	155507206	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155507206G>A	ENST00000302053.3	-	5	1453	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	FGA_ENST00000403106.3_Missense_Mutation_p.R459C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	459					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGCATGAACGACGCGTGGTG	0.463000													32	168					0	0	0.003271	0	0
DAAM1	23002	broad.mit.edu	37	14	59820639	59820639	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:59820639G>A	ENST00000395125.1	+	19	2366	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	DAAM1_ENST00000351081.1_Silent_p.K781K|DAAM1_ENST00000360909.3_Silent_p.K771K|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	781	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCAAAAAGAAGTTTGCAG	0.348000													5	19					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	39008051	39008051	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39008051G>A	ENST00000355481.4	+	66	9869	c.9738G>A	c.(9736-9738)ctG>ctA	p.L3246L	RYR1_ENST00000360985.3_Silent_p.L3246L|RYR1_ENST00000359596.3_Silent_p.L3246L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3246					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCGGTGCTGGAGCGGCTCA	0.632000													15	49					0	0	0.006122	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136827	40136827	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:40136827C>T	ENST00000278198.2	-	2	2979	c.1016G>A	c.(1015-1017)aGg>aAg	p.R339K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R339K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	339	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAATGTACCTCCCCTTTAG	0.527000													16	37					0	0	0.003163	0	0
OR5B3	441608	broad.mit.edu	37	11	58170535	58170535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58170535C>T	ENST00000309403.2	-	1	347	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTCATAGGCCATTGAGGCCA	0.463000													33	68					0	0	0.002836	0	0
RGS22	26166	broad.mit.edu	37	8	101075756	101075756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:101075756C>T	ENST00000360863.6	-	8	1434	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	RGS22_ENST00000523437.1_Missense_Mutation_p.E402K|RGS22_ENST00000523287.1_Missense_Mutation_p.E233K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	414					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTTCAAACTCCTTTCTATTG	0.388000													26	78					0	0	0.003954	0	0
RSPH10B	222967	broad.mit.edu	37	7	5968013	5968013	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:5968013C>T	ENST00000405415.1	-	19	2632	c.2246G>A	c.(2245-2247)aGa>aAa	p.R749K	RSPH10B_ENST00000404406.1_Missense_Mutation_p.R749K|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R749K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R749K			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	749										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATCCTTGGGTCTCTCATATTT	0.438000													37	184					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74019684	74019684	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:74019684C>T	ENST00000301607.3	-	3	503	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	EVPL_ENST00000586740.1_Missense_Mutation_p.G84S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	84	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCTGCGGCCCGTCTCCTGC	0.667000													8	10					0	0	0.003080	0	0
CAPN11	11131	broad.mit.edu	37	6	44144036	44144036	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44144036C>T	ENST00000542245.1	+	9	1000	c.962C>T	c.(961-963)cCc>cTc	p.P321L	CAPN11_ENST00000398776.1_Missense_Mutation_p.P321L			Q9UMQ6	CAN11_HUMAN	calpain 11	321	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTCCGGAATCCCTGGGGCCGG	0.592000													19	59					0	0	0.002780	0	0
C10orf71	118461	broad.mit.edu	37	10	50532237	50532237	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:50532237G>A	ENST00000374144.3	+	3	1935	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	C10orf71_ENST00000323868.4_Silent_p.E549E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	549										endometrium(1)	1						ATGGGCTTGAGGAAAGCCCTC	0.517000													10	16					0	0	0.008291	0	0
RALGPS2	55103	broad.mit.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S511L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333000													6	24					0	0	0.004482	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013751	117013751	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117013751C>T	ENST00000306985.4	+	2	158	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	2					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CCACACCATGCCGTCGGAGAA	0.627000													20	27					0	0	0.008871	0	0
HECTD3	79654	broad.mit.edu	37	1	45474040	45474040	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:45474040A>G	ENST00000372168.3	-	1	183	c.22T>C	c.(22-24)Tac>Cac	p.Y8H	HECTD3_ENST00000372172.4_Intron			Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	0					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GCATACCTGTAACACCCCCAA	0.512000													10	24					0	0	0.008291	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189438	92189438	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:92189438G>A	ENST00000256343.3	-	4	420	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	88					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACTATTCATGATTCCCAAGC	0.338000													20	43					0	0	0.010504	0	0
DOCK8	81704	broad.mit.edu	37	9	340236	340236	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:340236C>T	ENST00000432829.2	+	14	1706	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	DOCK8_ENST00000453981.1_Missense_Mutation_p.P532S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P464S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	532	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCCCGTGAAACCCTTTCCTGA	0.453000													33	34					0	0	0.004878	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315425	30315425	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:30315425G>A	ENST00000375377.1	-	3	3753	c.3652C>T	c.(3652-3654)Cat>Tat	p.H1218Y		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1218										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTACAAAATGGAATAAAGTG	0.493000													49	105					0	0	0.003610	0	0
ZNF862	643641	broad.mit.edu	37	7	149559258	149559258	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:149559258C>T	ENST00000223210.4	+	7	3254	c.3009C>T	c.(3007-3009)ctC>ctT	p.L1003L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCCAGCACCTCCCGTTCTCCA	0.597000													58	29					0	0	0.003610	0	0
SLC5A4	6527	broad.mit.edu	37	22	32628921	32628921	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:32628921A>C	ENST00000266086.4	-	9	997	c.986T>G	c.(985-987)gTg>gGg	p.V329G	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	329					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCCGGCATCACCATGAGGAA	0.478000													9	47					0	0	0.004482	0	0
EHD3	30845	broad.mit.edu	37	2	31489531	31489531	+	Silent	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:31489531C>A	ENST00000322054.5	+	6	1854	c.1569C>A	c.(1567-1569)gcC>gcA	p.A523A	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	523	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGCTGCCTGCCCACCTCCTGC	0.602000													23	47					9.57634e-11	1.1054e-10	0.003330	1	0
SLC5A9	200010	broad.mit.edu	37	1	48698123	48698123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:48698123C>T	ENST00000236495.5	+	9	1107	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	SLC5A9_ENST00000438567.2_Missense_Mutation_p.P328S|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.P349S	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	328						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						GAAGATCCTCCCCATGTTCTT	0.572000													16	40					0	0	0.006122	0	0
GMDS	2762	broad.mit.edu	37	6	1742745	1742745	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:1742745C>T	ENST00000380815.4	-	8	1116	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	GMDS_ENST00000530927.1_Missense_Mutation_p.E253K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	283					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCGACAAATTCCCGGACACTA	0.458000													19	38					0	0	0.010504	0	0
DCLK1	9201	broad.mit.edu	37	13	36379916	36379916	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:36379916C>T	ENST00000255448.4	-	15	2075	c.1863_splice	c.e15-1	p.E622_splice	DCLK1_ENST00000360631.3_Splice_Site_p.E622_splice|DCLK1_ENST00000379893.1_Splice_Site_p.E315_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	622	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAATGAGCTCCTGTGAAGGG	0.408000													32	60					0	0	0.002445	0	0
SPTB	6710	broad.mit.edu	37	14	65239632	65239632	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:65239632C>T	ENST00000389722.3	-	25	5272	c.5219G>A	c.(5218-5220)gGg>gAg	p.G1740E	SPTB_ENST00000556626.1_Missense_Mutation_p.G1740E|SPTB_ENST00000389720.3_Missense_Mutation_p.G1740E|SPTB_ENST00000389721.5_Missense_Mutation_p.G1740E|SPTB_ENST00000542895.1_Missense_Mutation_p.G1740E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1740					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAATCGCCCCGGTCTCCCG	0.627000													6	24					0	0	0.003080	0	0
ZNF648	127665	broad.mit.edu	37	1	182026812	182026812	+	Missense_Mutation	SNP	C	C	T	rs141227760	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:182026812C>T	ENST00000339948.3	-	2	541	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTGGGTCTCGTTGATCTTT	0.547000													34	53					0	0	0.002836	0	0
MRPL28	10573	broad.mit.edu	37	16	418546	418546	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:418546G>A	ENST00000199706.8	-	4	566	c.531C>T	c.(529-531)caC>caT	p.H177H	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Silent_p.H177H	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	177					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGTCCTCGGGGTGCAGCTGGG	0.677000													19	31					0	0	0.008871	0	0
RPL22	6146	broad.mit.edu	37	1	6253107	6253107	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:6253107A>G	ENST00000234875.4	-	3	163	c.125T>C	c.(124-126)tTt>tCt	p.F42S	RPL22_ENST00000497965.1_Missense_Mutation_p.F9S|RPL22_ENST00000484532.1_Missense_Mutation_p.F9S	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTGCAAAAACTGCTCCTG	0.423000			T	RUNX1	"""AML, CML"""								17	52					0	0	0.006122	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361998	72361998	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:72361998G>A	ENST00000001146.2	-	4	956	c.753C>T	c.(751-753)atC>atT	p.I251I	CYP26B1_ENST00000546307.1_Silent_p.I176I|CYP26B1_ENST00000412253.1_Silent_p.I60I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	251					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCTTCTCCCGGATGGCCTTCT	0.607000													16	37					0	0	0.007413	0	0
DHTKD1	55526	broad.mit.edu	37	10	12155038	12155038	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:12155038C>T	ENST00000263035.4	+	13	2356	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	765					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATTGTTGCTTCCCCTAAGATG	0.443000													142	283					0	0	0.003610	0	0
VWA8	23078	broad.mit.edu	37	13	42404772	42404772	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:42404772G>A	ENST00000379310.3	-	14	1661	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	VWA8_ENST00000281496.6_Silent_p.I531I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTCGATCATGGATTAACCTAA	0.398000													23	50					0	0	0.002780	0	0
POU6F2	11281	broad.mit.edu	37	7	39247156	39247156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:39247156C>T	ENST00000518318.2	+	4	490	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q142*|POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q150*|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	150					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACCAACATCCAAGGGCTGGT	0.542000													16	41					0	0	0.006122	0	0
ZBBX	79740	broad.mit.edu	37	3	166960382	166960382	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:166960382G>A	ENST00000392766.2	-	20	2527	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	ZBBX_ENST00000392767.2_Silent_p.F729F|ZBBX_ENST00000455345.2_Silent_p.F768F|ZBBX_ENST00000307529.5_Silent_p.F768F|ZBBX_ENST00000392764.1_Silent_p.F700F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	729						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTGGCTGCTGAAATCTGGGA	0.368000													16	36					0	0	0.007413	0	0
ITSN1	6453	broad.mit.edu	37	21	35122567	35122567	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:35122567C>T	ENST00000381318.3	+	6	754	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	ITSN1_ENST00000379960.5_Missense_Mutation_p.P156S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P156S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P156S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P119S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P156S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P156S|ITSN1_ENST00000399349.1_Missense_Mutation_p.P156S|ITSN1_ENST00000399367.3_Missense_Mutation_p.P156S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P156S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.P156S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P156S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522000													26	73					0	0	0.008361	0	0
MYO15A	51168	broad.mit.edu	37	17	18034824	18034824	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:18034824G>A	ENST00000205890.5	+	10	4523	c.4185G>A	c.(4183-4185)gaG>gaA	p.E1395E		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1395	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCTGCTTGAGAAATCCAGGA	0.627000													12	16					0	0	0.001855	0	0
RASGRP2	10235	broad.mit.edu	37	11	64496379	64496379	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64496379C>T	ENST00000377494.1	-	14	2649	c.1727G>A	c.(1726-1728)aGc>aAc	p.S576N	RASGRP2_ENST00000394432.3_Missense_Mutation_p.S576N|RASGRP2_ENST00000354024.3_Missense_Mutation_p.S576N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S576N			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	576					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGAGAAGCTGAAGGCGCG	0.652000													4	29					0	0	0.009096	0	0
KCNIP1	30820	broad.mit.edu	37	5	170139870	170139870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:170139870G>A	ENST00000411494.1	+	2	74	c.74G>A	c.(73-75)tGg>tAg	p.W25*	KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000434108.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	25					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGCCTGGTGGTATTACCAG	0.393000													35	58					0	0	0.006230	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													5	8					0	0	0.001984	0	0
KALRN	8997	broad.mit.edu	37	3	124390556	124390556	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:124390556G>A	ENST00000360013.3	+	48	6877	c.6750G>A	c.(6748-6750)gtG>gtA	p.V2250V	KALRN_ENST00000291478.4_Silent_p.V553V|KALRN_ENST00000428018.2_Silent_p.V521V|KALRN_ENST00000459915.1_Silent_p.V342V|KALRN_ENST00000393496.1_Silent_p.V591V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2249					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						GCACAGCTGTGATGAGGTCTC	0.557000													50	87					0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152129433	152129433	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152129433G>A	ENST00000316073.3	-	3	206	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	48	EF-hand 1.|S-100-like (By similarity).					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						GGGTCATTTGGTCTCTGTTAG	0.428000													19	34					0	0	0.010504	0	0
HSPA12B	116835	broad.mit.edu	37	20	3719337	3719337	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:3719337G>A	ENST00000254963.2	+	2	161	c.16G>A	c.(16-18)Gag>Aag	p.E6K	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	6							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GGCTGTCCCGGAGATGGGCCT	0.552000													33	65					0	0	0.003271	0	0
ZNF133	7692	broad.mit.edu	37	20	18295808	18295808	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:18295808C>T	ENST00000377671.3	+	7	869	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ZNF133_ENST00000396026.3_Missense_Mutation_p.P108S|ZNF133_ENST00000316358.4_Missense_Mutation_p.P105S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P105S|ZNF133_ENST00000402618.2_Missense_Mutation_p.P42S|ZNF133_ENST00000535822.1_Missense_Mutation_p.P10S|ZNF133_ENST00000538547.1_Missense_Mutation_p.P10S	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	105						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TAATCATCCCCCCTGGATCTT	0.572000													35	76					0	0	0.003271	0	0
ADCY4	196883	broad.mit.edu	37	14	24787879	24787879	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:24787879C>T	ENST00000310677.4	-	25	3175	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	ADCY4_ENST00000554068.2_Missense_Mutation_p.G1021E|ADCY4_ENST00000418030.2_Missense_Mutation_p.G1021E	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1021					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAAGGACTCCTGTACTCTC	0.552000													33	42					0	0	0.003271	0	0
DIO2	1734	broad.mit.edu	37	14	80669341	80669341	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:80669341C>T	ENST00000557125.1	-	2	136	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	DIO2_ENST00000557010.1_Silent_p.A171A|DIO2_ENST00000555750.1_Silent_p.A207A|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.A171A			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCCGGTATCGCCCAGCCAT	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	44					0	0	0.009535	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182683508	182683508	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:182683508G>A	ENST00000292782.4	-	2	190	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	DCUN1D1_ENST00000469954.1_5'UTR	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	13	UBA-like.					ubiquitin ligase complex	protein binding	p.R13C(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAAACTGACGAACTTTATCC	0.308000													23	51					0	0	0.002299	0	0
HSD17B13	345275	broad.mit.edu	37	4	88235055	88235055	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:88235055G>A	ENST00000328546.4	-	5	679	c.615C>T	c.(613-615)gcC>gcT	p.A205A	HSD17B13_ENST00000302219.6_Silent_p.A169A	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	205						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTTTCCCAAGGCCTGAAGTT	0.413000													9	30					0	0	0.004482	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129668810	129668810	+	Missense_Mutation	SNP	G	G	A	rs143076145	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:129668810G>A	ENST00000358303.4	-	5	637	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R185C|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R164C|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R185C	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	185	F-box-like.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CTTTGAAAACGATCTAGGAAT	0.443000													50	14					0	0	0.003610	0	0
EXTL3	2137	broad.mit.edu	37	8	28574084	28574084	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:28574084C>T	ENST00000220562.4	+	3	1410	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	170						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGCCTCCCTCCCCCGAAGGC	0.607000													18	36					0	0	0.008871	0	0
SALL1	6299	broad.mit.edu	37	16	51175596	51175596	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:51175596G>A	ENST00000440970.1	-	2	677	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SALL1_ENST00000251020.4_Silent_p.L179L|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	179					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGTCCCCGAGTTGAGGTA	0.617000													19	26					0	0	0.010504	0	0
GPA33	10223	broad.mit.edu	37	1	167042666	167042666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:167042666G>A	ENST00000367868.3	-	2	497	c.154C>T	c.(154-156)Cga>Tga	p.R52*	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	52	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGTCCCTCTCGACTGGAGGTG	0.522000													8	48					0	0	0.003080	0	0
LAMA3	3909	broad.mit.edu	37	18	21530123	21530123	+	Splice_Site	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21530123G>T	ENST00000313654.9	+	72	9883	c.9642_splice	c.e72+1	p.K3214_splice	LAMA3_ENST00000269217.6_Splice_Site_p.K1605_splice|LAMA3_ENST00000587184.1_Splice_Site_p.K1549_splice|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.K3158_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3214	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCAGGAAAGGTGTGTAGCA	0.512000													16	40					1.3612e-06	1.56774e-06	0.003163	1	0
MYH13	8735	broad.mit.edu	37	17	10267645	10267645	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10267645C>T	ENST00000418404.3	-	2	366	c.204_splice	c.e2+1	p.R68_splice	MYH13_ENST00000570743.1_Splice_Site_p.R68_splice|MYH13_ENST00000252172.4_Splice_Site_p.R68_splice			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	68	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACACTCACCCGGTCATCGAG	0.403000													12	17					0	0	0.002450	0	0
TCF23	150921	broad.mit.edu	37	2	27375592	27375592	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27375592C>T	ENST00000296096.5	+	3	632	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	168					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGAGGCCTGGGGTACTC	0.567000													14	47					0	0	0.003163	0	0
UBR3	130507	broad.mit.edu	37	2	170897478	170897478	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:170897478C>T	ENST00000272793.5	+	32	4693	c.4643C>T	c.(4642-4644)cCa>cTa	p.P1548L	UBR3_ENST00000418381.1_Missense_Mutation_p.P1548L|UBR3_ENST00000392631.1_Missense_Mutation_p.P369L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1548					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAATGATGCCACAACCCTTA	0.343000													4	30					0	0	0.001168	0	0
CACNA1A	773	broad.mit.edu	37	19	13414615	13414615	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:13414615G>A	ENST00000360228.5	-	16	2069	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S	CACNA1A_ENST00000573710.2_Silent_p.S691S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	691					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGAAATAGATGGAGAACACCA	0.567000													61	130					0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800840	18800840	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18800840G>A	ENST00000433979.1	+	32	4332	c.4216G>A	c.(4216-4218)Gga>Aga	p.G1406R	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1447R|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1406R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1406	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGAGCTCCAAGGACATGTCTT	0.338000													4	35					0	0	0.000602	0	0
FRAS1	80144	broad.mit.edu	37	4	79334179	79334179	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:79334179G>A	ENST00000264895.6	+	32	4805	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	FRAS1_ENST00000325942.6_Silent_p.A1455A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1454					cell communication	integral to membrane|plasma membrane	metal ion binding			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						TCAACATCGCGATCTTACCAC	0.512000													5	18					0	0	0.003080	0	0
SMC6	79677	broad.mit.edu	37	2	17898095	17898095	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:17898095A>G	ENST00000448223.2	-	14	1528	c.1259T>C	c.(1258-1260)tTt>tCt	p.F420S	SMC6_ENST00000402989.1_Missense_Mutation_p.F420S|SMC6_ENST00000381272.4_Missense_Mutation_p.F446S|SMC6_ENST00000351948.4_Missense_Mutation_p.F420S	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	420					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGATTTTGAAAGGCCTTTAC	0.348000													26	66					0	0	0.003330	0	0
PARD3B	117583	broad.mit.edu	37	2	206265765	206265765	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:206265765G>A	ENST00000406610.2	+	19	2866	c.2659G>A	c.(2659-2661)Gga>Aga	p.G887R	PARD3B_ENST00000358768.2_Missense_Mutation_p.G825R|PARD3B_ENST00000349953.3_Missense_Mutation_p.G887R|PARD3B_ENST00000351153.1_Missense_Mutation_p.G818R	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	887	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATAAGGGTGGAAAGGCTGA	0.428000													7	17					0	0	0.003080	0	0
MGA	23269	broad.mit.edu	37	15	42041639	42041639	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42041639C>T	ENST00000219905.7	+	17	6015	c.5834C>T	c.(5833-5835)gCc>gTc	p.A1945V	MGA_ENST00000570161.1_Missense_Mutation_p.A1945V|MGA_ENST00000389936.4_Missense_Mutation_p.A1906V|MGA_ENST00000545763.1_Missense_Mutation_p.A1736V|MGA_ENST00000566586.1_Missense_Mutation_p.A1736V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1906						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGTAGTTTTGCCTTGTTACAG	0.448000													7	34					0	0	0.001984	0	0
EPPK1	83481	broad.mit.edu	37	8	144942583	144942583	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144942583G>A	ENST00000525985.1	-	2	4910	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F				P58107	EPIPL_HUMAN	epiplakin 1	1613						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCGATGATGAAGCCGGTAG	0.627000													10	46					0	0	0.006214	0	0
KLHL14	57565	broad.mit.edu	37	18	30350077	30350077	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:30350077C>T	ENST00000359358.4	-	2	916	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	KLHL14_ENST00000358095.4_Missense_Mutation_p.V160I|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	160						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ATCTTGCTGACCGACAGCACC	0.617000													16	73					0	0	0.003163	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600775	80600775	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80600775T>A	ENST00000254037.2	+	1	3354	c.199T>A	c.(199-201)Tac>Aac	p.Y67N	ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.Y67N|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.Y67N|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.Y67N			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	67							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GAAAAAAGAGTACTTAAATGA	0.368000													20	26					0	0	0.008871	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917048	25917048	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:25917048G>A	ENST00000377850.3	-	8	1319	c.795C>T	c.(793-795)ccC>ccT	p.P265P	SLC17A2_ENST00000265425.3_Silent_p.P265P|SLC17A2_ENST00000360488.3_Silent_p.P265P			O00624	NPT3_HUMAN	solute carrier family 17, member 2	265					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCGCCTTTATGGGGACAGCTC	0.488000													17	34					0	0	0.004990	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456558	40456558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:40456558G>A	ENST00000378438.4	+	4	516	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E44K	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	120					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						ATTTTCTGAGGAAACTCCTGT	0.328000													24	13					0	0	0.006320	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635250	122635250	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:122635250C>T	ENST00000249284.2	-	1	504	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	147					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGTAATTCCCAATAGCTGAA	0.398000													19	65					0	0	0.006122	0	0
KAT2A	2648	broad.mit.edu	37	17	40271325	40271325	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40271325G>A	ENST00000225916.5	-	6	1064	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	337					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTCCACTCGGAACTTTTCCA	0.567000													55	83					0	0	0.003610	0	0
CAPN11	11131	broad.mit.edu	37	6	44144037	44144037	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44144037C>T	ENST00000542245.1	+	9	1001	c.963C>T	c.(961-963)ccC>ccT	p.P321P	CAPN11_ENST00000398776.1_Silent_p.P321P			Q9UMQ6	CAN11_HUMAN	calpain 11	321	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCGGAATCCCTGGGGCCGGA	0.597000													19	58					0	0	0.002780	0	0
COL3A1	1281	broad.mit.edu	37	2	189854874	189854874	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:189854874C>T	ENST00000304636.3	+	9	913	c.744_splice	c.e9+1	p.P248_splice	COL3A1_ENST00000317840.5_Splice_Site_p.P248_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	248	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCTGGACCTCCAGTGAGTCTT	0.368000													20	55					0	0	0.008871	0	0
BRCA2	675	broad.mit.edu	37	13	32937450	32937450	+	Missense_Mutation	SNP	C	C	T	rs80359054		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:32937450C>T	ENST00000544455.1	+	18	8338	c.8111C>T	c.(8110-8112)tCt>tTt	p.S2704F	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2704F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2704					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTGAAACTTCTAGCAATAAA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	49					0	0	0.008291	0	0
PTGS2	5743	broad.mit.edu	37	1	186645691	186645691	+	Missense_Mutation	SNP	C	C	T	rs148160346		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186645691C>T	ENST00000367468.5	-	7	1014	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.R293L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GTTGTGTTCCCGCAGCCAGAT	0.502000													10	52					0	0	0.008291	0	0
OR1A1	8383	broad.mit.edu	37	17	3118978	3118978	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:3118978G>A	ENST00000304094.1	+	1	64	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGTCAGCAGGAACAGGAAGA	0.438000													32	45					0	0	0.002445	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158093791	158093791	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:158093791C>T	ENST00000359775.5	+	9	1993	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ZDHHC14_ENST00000414563.2_Intron|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	368						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GCACCAAATTCGTTTTGCAGG	0.667000													15	24					0	0	0.001882	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918534	51918534	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51918534C>T	ENST00000353836.5	-	7	1452	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E263K|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E353K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E328K|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E353K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E321K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E363K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E411K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E411K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	411	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGAGGCAGCTCCAGGACCCCG	0.667000													16	39					0	0	0.004007	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85466851	85466851	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:85466851C>T	ENST00000393217.2	+	11	2923	c.2862C>T	c.(2860-2862)ttC>ttT	p.F954F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	954										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTGTAATTTCCTTATCTCCC	0.373000													16	28					0	0	0.003163	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056038	58056038	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:58056038G>A	ENST00000556826.1	-	3	719	c.483C>T	c.(481-483)ttC>ttT	p.F161F	SLC35F4_ENST00000339762.6_Silent_p.F197F|SLC35F4_ENST00000554729.1_Silent_p.F38F	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						ACCAAGTCATGAAAAATGGGC	0.358000													24	45					0	0	0.002780	0	0
INADL	10207	broad.mit.edu	37	1	62586894	62586894	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62586894C>T	ENST00000371158.2	+	38	5046	c.4932C>T	c.(4930-4932)ttC>ttT	p.F1644F	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1644					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCCCTCCTTCGCTCCTGTCA	0.507000													37	111					0	0	0.008740	0	0
CAMK2D	817	broad.mit.edu	37	4	114376973	114376973	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:114376973G>A	ENST00000454265.2	-	20	2371	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	CAMK2D_ENST00000514328.1_Missense_Mutation_p.P479S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.P491S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.P491S|CAMK2D_ENST00000429180.1_Missense_Mutation_p.P500S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P514S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P494S|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000342666.5_Missense_Mutation_p.P480S|CAMK2D_ENST00000394524.3_Intron			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	480					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		GGAATACAGGGTGGCCTATTA	0.413000													18	36					0	0	0.010504	0	0
CCL25	6370	broad.mit.edu	37	19	8122782	8122782	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8122782C>T	ENST00000253451.4	+	5	526	c.420C>T	c.(418-420)tcC>tcT	p.S140S	CCL25_ENST00000390669.3_Silent_p.S141S	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	141					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ggaatgtctccctcctgatat	0.483000													38	81					0	0	0.002522	0	0
FBN3	84467	broad.mit.edu	37	19	8175972	8175972	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8175972C>A	ENST00000600128.1	-	33	4594	c.4180G>T	c.(4180-4182)Gac>Tac	p.D1394Y	FBN3_ENST00000270509.2_Missense_Mutation_p.D1394Y|FBN3_ENST00000601739.1_Missense_Mutation_p.D1394Y			Q75N90	FBN3_HUMAN	fibrillin 3	1394	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCGGTGGGGTCAAAGCCCATC	0.652000													8	26					0.000157383	0.000180859	0.003080	1	0
OR4K1	79544	broad.mit.edu	37	14	20404396	20404396	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20404396G>A	ENST00000285600.4	+	1	630	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTTGCATGGATACATATGA	0.443000													37	75					0	0	0.006999	0	0
QTRTD1	79691	broad.mit.edu	37	3	113795694	113795694	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:113795694C>T	ENST00000281273.4	+	7	908	c.651C>T	c.(649-651)ttC>ttT	p.F217F	QTRTD1_ENST00000485050.1_Silent_p.F229F|QTRTD1_ENST00000493014.1_Silent_p.F111F|QTRTD1_ENST00000479882.1_Silent_p.F94F	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	217					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TGGGTGGCTTCCTTCTGGATG	0.537000													30	55					0	0	0.002096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883177	228883177	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:228883177C>T	ENST00000392056.3	-	7	2439	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G798D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	798						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCACTCCACCCTTGTCTTG	0.488000													37	120					0	0	0.009718	0	0
MS4A8	83661	broad.mit.edu	37	11	60468530	60468530	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:60468530T>C	ENST00000300226.2	+	2	400	c.197T>C	c.(196-198)cTg>cCg	p.L66P		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		CAGAAAGCTCTGAAAGAAGGC	0.547000													13	26					0	0	0.001855	0	0
SLC4A9	83697	broad.mit.edu	37	5	139747434	139747434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139747434G>A	ENST00000230993.6	+	16	2412	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	SLC4A9_ENST00000506757.2_Missense_Mutation_p.E769K|SLC4A9_ENST00000506545.1_Missense_Mutation_p.E706K|SLC4A9_ENST00000432095.2_Missense_Mutation_p.E755K|SLC4A9_ENST00000507527.1_Missense_Mutation_p.E793K	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	793	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCGGAGAGAGAGCAGAGC	0.582000													11	21					0	0	0.001368	0	0
NOS1	4842	broad.mit.edu	37	12	117703283	117703283	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117703283G>A	ENST00000317775.6	-	12	2659	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	NOS1_ENST00000338101.4_Silent_p.S658S|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	658					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCGGTGGCGGAGTGATGGT	0.602000													7	4					0	0	0.001984	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73302669	73302669	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:73302669G>A	ENST00000258098.6	-	5	2182	c.1942C>T	c.(1942-1944)Ccc>Tcc	p.P648S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	648	FIP-RBD.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGGCCCGGGGGGATCTGCAGC	0.637000													16	55					0	0	0.001882	0	0
MAGI1	9223	broad.mit.edu	37	3	65342697	65342697	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:65342697C>T	ENST00000402939.2	-	23	3744	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1278					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGTGAAGATCGGGTGGGTAA	0.612000													46	71					0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17052326	17052326	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:17052326C>T	ENST00000418129.2	+	2	1575	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	PLCL2_ENST00000396755.2_Silent_p.F370F|PLCL2_ENST00000432376.1_Silent_p.F370F|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	496					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGATAGTTTTCCGCAGTGTCA	0.398000													23	44					0	0	0.002780	0	0
GALNT8	26290	broad.mit.edu	37	12	4854713	4854713	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4854713T>C	ENST00000252318.2	+	5	1316	c.979T>C	c.(979-981)Ttt>Ctt	p.F327L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	327						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGTTGATGGGTTTAACTGGGA	0.488000													14	30					0	0	0.002450	0	0
LRTOMT	220074	broad.mit.edu	37	11	71804553	71804553	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:71804553G>A	ENST00000324866.7	+	4	260	c.94G>A	c.(94-96)Gag>Aag	p.E32K	LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000289488.2_Missense_Mutation_p.E32K|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E14K|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E32K	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	32						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						TCTGGTAAATGAGGAGCCAAG	0.488000													6	11					0	0	0.001168	0	0
TRPC4	7223	broad.mit.edu	37	13	38320118	38320118	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:38320118C>T	ENST00000379705.3	-	3	1710	c.853G>A	c.(853-855)Gat>Aat	p.D285N	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.D285N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D285N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D285N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.D285N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D285N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D285N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	285	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTGCAAGATCATTTCCACTT	0.393000													34	139					0	0	0.003271	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675988	25675988	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:25675988C>T	ENST00000382051.3	+	11	1337	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC34A2_ENST00000503434.1_Silent_p.I428I|SLC34A2_ENST00000504570.1_Silent_p.I428I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	429					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGACCTTCATCGTACAGAGCA	0.562000			T	ROS1	NSCLC								12	87					0	0	0.001855	0	0
STT3A	3703	broad.mit.edu	37	11	125478009	125478009	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:125478009C>T	ENST00000392708.4	+	9	945	c.786C>T	c.(784-786)gtC>gtT	p.V262V	STT3A_ENST00000531491.1_Silent_p.V170V|STT3A_ENST00000529196.1_Silent_p.V262V	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	262					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TACAGCCTGTCCTTTCATCAG	0.423000													54	123					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7702555	7702555	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7702555C>T	ENST00000572933.1	+	56	10154	c.8694C>T	c.(8692-8694)ccC>ccT	p.P2898P	DNAH2_ENST00000389173.2_Silent_p.P2898P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2898	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGGGATCCCTTCAGGTGAC	0.562000													9	45					0	0	0.006214	0	0
HTR3B	9177	broad.mit.edu	37	11	113803129	113803129	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:113803129C>T	ENST00000260191.2	+	5	744	c.487C>T	c.(487-489)Cca>Tca	p.P163S	HTR3B_ENST00000537778.1_Missense_Mutation_p.P152S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	163					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		ATATGCTTTTCCATTTGATGT	0.453000													15	49					0	0	0.003163	0	0
OGDHL	55753	broad.mit.edu	37	10	50944403	50944403	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:50944403C>T	ENST00000374103.4	-	21	2839	c.2754_splice	c.e21+1	p.Q918_splice	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Splice_Site_p.Q861_splice|OGDHL_ENST00000432695.1_Splice_Site_p.Q709_splice	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	918					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCAGGCACACCTGCTCCAGGC	0.617000													32	45					0	0	0.009535	0	0
ADCY8	114	broad.mit.edu	37	8	131880139	131880139	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:131880139G>A	ENST00000286355.5	-	9	4255	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	721					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATAGAAGAACGATAAATGCAC	0.348000										HNSCC(32;0.087)			20	43					0	0	0.002299	0	0
SHANK2	22941	broad.mit.edu	37	11	70336483	70336483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:70336483C>T	ENST00000338508.4	-	30	2451	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	SHANK2_ENST00000449116.2_Missense_Mutation_p.E219K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E222K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E229K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E221K|SHANK2_ENST00000409530.1_Missense_Mutation_p.E228K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E438K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	438					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTTGGCGTTCGTACACAGAC	0.602000													25	43					0	0	0.007291	0	0
RBM46	166863	broad.mit.edu	37	4	155720234	155720234	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155720234A>C	ENST00000510397.1	+	4	1099	c.920A>C	c.(919-921)aAa>aCa	p.K307T	RBM46_ENST00000281722.3_Missense_Mutation_p.K307T|RBM46_ENST00000514866.1_Missense_Mutation_p.K307T	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	307	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ACACTAGCTAAACCAGTAAAT	0.383000													5	24					0	0	0.000602	0	0
EXTL3	2137	broad.mit.edu	37	8	28575536	28575536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:28575536C>T	ENST00000220562.4	+	3	2862	c.1960C>T	c.(1960-1962)Ctt>Ttt	p.L654F	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.L270F	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	654						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCAGGCAGCGCTTGGAGGCAA	0.557000													23	29					0	0	0.002299	0	0
GRIA2	2891	broad.mit.edu	37	4	158262423	158262423	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:158262423T>C	ENST00000296526.7	+	12	2177	c.1852T>C	c.(1852-1854)Tct>Cct	p.S618P	GRIA2_ENST00000507898.1_Missense_Mutation_p.S571P|GRIA2_ENST00000264426.9_Missense_Mutation_p.S618P|GRIA2_ENST00000393815.2_Missense_Mutation_p.S571P|GRIA2_ENST00000449365.1_Missense_Mutation_p.S571P	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	618					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGATCCCTCTCTGGGCGCAT	0.398000													26	81					0	0	0.005443	0	0
EVX2	344191	broad.mit.edu	37	2	176948093	176948093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:176948093C>T	ENST00000308618.4	-	1	548	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCATTGTTTTCCTTAAGCTGA	0.677000													3	9					0	0	0.009096	0	0
MARCH1	55016	broad.mit.edu	37	4	164506997	164506997	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164506997G>A	ENST00000503008.1	-	6	1303	c.327C>T	c.(325-327)tcC>tcT	p.S109S	MARCH1_ENST00000339875.5_Silent_p.S92S|MARCH1_ENST00000274056.7_Silent_p.S109S|MARCH1_ENST00000514618.1_Silent_p.S365S	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	109					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGGAGGCAGGACTGGTGGA	0.542000													21	50					0	0	0.008871	0	0
NSUN2	54888	broad.mit.edu	37	5	6600042	6600042	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:6600042C>T	ENST00000264670.6	-	19	2612	c.2301G>A	c.(2299-2301)cgG>cgA	p.R767R	NSUN2_ENST00000506139.1_Silent_p.R732R|NSUN2_ENST00000539938.1_Silent_p.R531R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	767						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GGCCTGCTCACCGGGGTGGAT	0.632000													49	102					0	0	0.003610	0	0
LRRN2	10446	broad.mit.edu	37	1	204588975	204588975	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:204588975T>G	ENST00000367175.1	-	1	2358	c.146A>C	c.(145-147)gAg>gCg	p.E49A	LRRN2_ENST00000367177.3_Missense_Mutation_p.E49A|LRRN2_ENST00000367176.3_Missense_Mutation_p.E49A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	49	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGTGGTAGCCTCGCGGTAGGA	0.657000													7	25					0	0	0.001984	0	0
ATP10A	57194	broad.mit.edu	37	15	25966939	25966939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:25966939G>A	ENST00000356865.6	-	7	1339	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	410					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCAGAGCTCGGCACTGCAGC	0.418000													22	78					0	0	0.003330	0	0
NRSN1	140767	broad.mit.edu	37	6	24146056	24146056	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:24146056G>A	ENST00000378491.4	+	4	771	c.470G>A	c.(469-471)cGa>cAa	p.R157Q		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	157					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTAAAGAACGAATCGCAGAC	0.493000													14	56					0	0	0.002450	0	0
OR4C16	219428	broad.mit.edu	37	11	55339824	55339824	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55339824C>T	ENST00000314634.3	+	1	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCTCTACTTCCATAACCCCT	0.418000													68	125					0	0	0.003610	0	0
GRIP2	80852	broad.mit.edu	37	3	14565160	14565160	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:14565160G>A	ENST00000273083.3	-	0	514							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTTGTAGAGGGAGACGTCCAC	0.498000													8	18					0	0	0.004482	0	0
GPR83	10888	broad.mit.edu	37	11	94126696	94126696	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:94126696G>A	ENST00000243673.2	-	3	773	c.602C>T	c.(601-603)tCa>tTa	p.S201L	GPR83_ENST00000539203.2_Missense_Mutation_p.S159L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	201						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGTGGGAGTGAAAAGAACGT	0.473000													5	39					0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71827912	71827912	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:71827912G>A	ENST00000258104.3	+	34	4060	c.3783G>A	c.(3781-3783)acG>acA	p.T1261T	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.T1279T|DYSF_ENST00000409762.1_Silent_p.T1278T|DYSF_ENST00000429174.2_Silent_p.T1261T|DYSF_ENST00000413539.2_Silent_p.T1292T|DYSF_ENST00000410041.1_Silent_p.T1279T|DYSF_ENST00000409744.1_Silent_p.T1248T|DYSF_ENST00000394120.2_Silent_p.T1262T|DYSF_ENST00000409651.1_Silent_p.T1293T|DYSF_ENST00000409582.3_Silent_p.T1278T|DYSF_ENST00000409366.1_Silent_p.T1262T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1261						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCCCACTGACGAGGGGCAGCC	0.602000													44	100					0	0	0.003214	0	0
GRM3	2913	broad.mit.edu	37	7	86415780	86415780	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:86415780G>A	ENST00000361669.2	+	3	1771	c.672G>A	c.(670-672)gaG>gaA	p.E224E	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.E224E|GRM3_ENST00000394720.2_Silent_p.E222E|GRM3_ENST00000536043.1_Silent_p.E96E|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	224					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATTACGGGGAGACAGGGATCG	0.607000													38	19					0	0	0.005524	0	0
ZNF420	147923	broad.mit.edu	37	19	37618294	37618294	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37618294C>T	ENST00000337995.3	+	5	616	c.401C>T	c.(400-402)tCt>tTt	p.S134F	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.S134F	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATGTCATTCTACTGAGAAA	0.368000													11	39					0	0	0.001368	0	0
C1orf168	199920	broad.mit.edu	37	1	57258448	57258448	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:57258448C>T	ENST00000343433.6	-	2	118	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	13										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AAATTTGGCTCGAAGTTCCTT	0.388000													74	169					0	0	0.003610	0	0
VAMP7	6845	broad.mit.edu	37	X	155119253	155119253	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:155119253A>T	ENST00000286448.6	+	2	289	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	VAMP7_ENST00000460621.1_Intron|VAMP7_ENST00000262640.6_Nonsense_Mutation_p.K42*|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	42	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAAAATAACAAACTAACGTA	0.443000													34	52					0	0	0.004289	0	0
FNDC9	408263	broad.mit.edu	37	5	156770210	156770210	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156770210G>A	ENST00000312349.4	-	2	522	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CACCCAAAGGGAGATCTGGGG	0.587000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					0	0	0.007413	0	0
INPPL1	3636	broad.mit.edu	37	11	71945395	71945395	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:71945395C>T	ENST00000541756.1	+	20	2487	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	INPPL1_ENST00000538751.1_Silent_p.S519S|INPPL1_ENST00000298229.2_Silent_p.S761S			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	761					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGACAGCCAGCCGCACCAAGT	0.567000													11	46					0	0	0.001368	0	0
CDH24	64403	broad.mit.edu	37	14	23524311	23524311	+	Silent	SNP	G	G	A	rs140243541	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23524311G>A	ENST00000397359.3	-	3	712	c.453C>T	c.(451-453)ccC>ccT	p.P151P	CDH24_ENST00000267383.5_Silent_p.P151P|CDH24_ENST00000554034.1_Silent_p.P151P|CDH24_ENST00000487137.2_Silent_p.P151P	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	151	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGGCCCAAGGGGAAAAATGG	0.592000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	88					0	0	0.003610	0	0
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118770898G>A	ENST00000334801.3	-	7	4098	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1045	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627000													13	25					0	0	0.003163	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084146	26084146	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:26084146G>A	ENST00000478176.1	-	0	311					NR_003678.1																						TCAGTTTAAGGATCTGCTGTT	0.313000													5	21					0	0	0.001168	0	0
TNXB	7148	broad.mit.edu	37	6	32065010	32065010	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32065010C>T	ENST00000375244.3	-	3	821	c.620G>A	c.(619-621)gGc>gAc	p.G207D	TNXB_ENST00000479795.1_Missense_Mutation_p.G207D|TNXB_ENST00000375247.2_Missense_Mutation_p.G207D			P22105	TENX_HUMAN	tenascin XB	207	EGF-like 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGTGTAGCCGGGAAAGCA	0.667000													50	97					0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152329028	152329028	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152329028C>T	ENST00000388718.5	-	3	1306	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	412	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGAAAATTCATTTGAACTA	0.428000													34	47					0	0	0.002836	0	0
CEP250	11190	broad.mit.edu	37	20	34091040	34091040	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:34091040G>A	ENST00000397527.1	+	30	5563	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K	CEP250_ENST00000342580.4_Missense_Mutation_p.E1559K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1615	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCATGACCTGGAGAGCCACAG	0.577000													31	30					0	0	0.009535	0	0
MMP8	4317	broad.mit.edu	37	11	102587050	102587050	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102587050T>C	ENST00000236826.3	-	6	983	c.885A>G	c.(883-885)atA>atG	p.I295M		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	295	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TAAAGAAAAGTATTTCTCCAC	0.393000													19	97					0	0	0.006122	0	0
EGFL8	80864	broad.mit.edu	37	6	32135730	32135730	+	Silent	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:32135730A>C	ENST00000395512.1	+	9	984	c.879A>C	c.(877-879)cgA>cgC	p.R293R	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000489721.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.R293R			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	293						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCAATCATCGATAAGAAGCCT	0.542000													106	275					0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152329534	152329534	+	Missense_Mutation	SNP	C	C	T	rs139597182	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152329534C>T	ENST00000388718.5	-	3	800	c.728G>A	c.(727-729)gGa>gAa	p.G243E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	243	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTCCAATCCACATGACAG	0.468000													37	110					0	0	0.004289	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000													20	44					0	0	0.010504	0	0
PHKA2	5256	broad.mit.edu	37	X	18923922	18923922	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:18923922G>A	ENST00000379942.4	-	26	3527	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	954			NL -> I (in GSD9A; type 1).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TATGGTGCAGGAGATTTTTCA	0.443000													62	39					0	0	0.003610	0	0
CLGN	1047	broad.mit.edu	37	4	141327157	141327157	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:141327157G>A	ENST00000325617.5	-	5	798	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	CLGN_ENST00000537281.1_Missense_Mutation_p.H120Y|CLGN_ENST00000414773.1_Missense_Mutation_p.H120Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	120					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATATTGCATGATGCTTTGCT	0.338000													10	32					0	0	0.008291	0	0
ABCA1	19	broad.mit.edu	37	9	107618170	107618170	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:107618170G>A	ENST00000423487.2	-	8	1216	c.920C>T	c.(919-921)tCc>tTc	p.S307F	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1666					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)	TGGAAACAGGGAAACACTCAC	0.438000													12	16					0	0	0.002450	0	0
MAP2	4133	broad.mit.edu	37	2	210560546	210560546	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:210560546G>A	ENST00000360351.4	+	7	4158	c.3652G>A	c.(3652-3654)Gca>Aca	p.A1218T	MAP2_ENST00000447185.1_Missense_Mutation_p.A1214T|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1218					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCTGATGTTGCAGAGCCATT	0.458000													11	28					0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238283530	238283530	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238283530G>A	ENST00000295550.4	-	8	3656	c.3204C>T	c.(3202-3204)gcC>gcT	p.A1068A	COL6A3_ENST00000472056.1_Silent_p.A461A|COL6A3_ENST00000347401.3_Silent_p.A867A|COL6A3_ENST00000392003.2_Silent_p.A661A|COL6A3_ENST00000392004.3_Silent_p.A862A|COL6A3_ENST00000346358.4_Silent_p.A868A|COL6A3_ENST00000409809.1_Silent_p.A862A|COL6A3_ENST00000353578.4_Silent_p.A862A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1068	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGCACCACGGCCACGCGGA	0.607000													13	33					0	0	0.002450	0	0
LOXL2	4017	broad.mit.edu	37	8	23186040	23186040	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:23186040C>T	ENST00000389131.3	-	6	1374	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	335	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCGGCCCTCCCCGATGTAGG	0.622000													17	56					0	0	0.004990	0	0
ENTPD3	956	broad.mit.edu	37	3	40457387	40457387	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40457387G>A	ENST00000301825.3	+	7	772	c.654G>A	c.(652-654)ctG>ctA	p.L218L	ENTPD3_ENST00000456402.1_Silent_p.L218L|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.L218L	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	218						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CGGGTGCCCTGGACTTAGGTG	0.542000													10	35					0	0	0.000978	0	0
MEP1A	4224	broad.mit.edu	37	6	46806801	46806801	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46806801C>T	ENST00000230588.4	+	14	2178	c.2169C>T	c.(2167-2169)atC>atT	p.I723I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	723					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCATGGTGATCGGAGGCACGG	0.587000													41	112					0	0	0.006999	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561138	33561138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:33561138C>T	ENST00000504830.1	-	20	4454	c.4119G>A	c.(4117-4119)tgG>tgA	p.W1373*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1288*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1373	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTACCTTGCTCCAGTTTCCCA	0.507000										HNSCC(64;0.19)			55	85					0	0	0.003610	0	0
KCNQ4	9132	broad.mit.edu	37	1	41250026	41250026	+	Silent	SNP	C	C	T	rs4500305		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41250026C>T	ENST00000347132.5	+	1	343	c.261C>T	c.(259-261)gtC>gtT	p.V87V	KCNQ4_ENST00000509682.2_Silent_p.V87V	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	87					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGAACTGGGTCTACAACGTGC	0.736000													12	42					0	0	0.001855	0	0
CACNA1S	779	broad.mit.edu	37	1	201054112	201054112	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:201054112C>T	ENST00000362061.3	-	9	1424	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E400K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	400					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGCAATTTCATACAGGCTC	0.547000													14	64					0	0	0.003163	0	0
SETD5	55209	broad.mit.edu	37	3	9512293	9512293	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:9512293C>T	ENST00000402466.1	+	20	3349	c.2581C>T	c.(2581-2583)Cca>Tca	p.P861S	SETD5_ENST00000406341.1_Missense_Mutation_p.P959S|SETD5_ENST00000402198.1_Missense_Mutation_p.P959S|SETD5_ENST00000302463.6_Missense_Mutation_p.P861S|SETD5_ENST00000407969.1_Missense_Mutation_p.P978S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	959										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GACTGGTTTCCCAAGCAGAAG	0.512000													46	96					0	0	0.003610	0	0
ABCA9	10350	broad.mit.edu	37	17	67017945	67017945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:67017945G>A	ENST00000340001.4	-	18	2550	c.2339C>T	c.(2338-2340)tCc>tTc	p.S780F	ABCA9_ENST00000370732.2_Missense_Mutation_p.S780F|ABCA9_ENST00000453985.2_Missense_Mutation_p.S780F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	780					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTTGTTATGGAAACACCATA	0.299000													29	55					0	0	0.002096	0	0
PLD5	200150	broad.mit.edu	37	1	242253296	242253296	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:242253296C>T	ENST00000442594.2	-	11	1704	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	PLD5_ENST00000536534.1_Missense_Mutation_p.E491K|PLD5_ENST00000427495.1_Missense_Mutation_p.E429K	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	491						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTCCCTTTCAAACACATCT	0.458000													56	79					0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43580787	43580787	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:43580787G>A	ENST00000395891.1	+	25	4650	c.4045G>A	c.(4045-4047)Ggt>Agt	p.G1349S	HECW1_ENST00000453890.1_Missense_Mutation_p.G1315S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1349	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGCATCCTGGGTCTGGCTCT	0.448000													40	73					0	0	0.009718	0	0
LRP4	4038	broad.mit.edu	37	11	46918471	46918471	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:46918471C>T	ENST00000378623.1	-	8	1113	c.871G>A	c.(871-873)Ggg>Agg	p.G291R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	291	LDL-receptor class A 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGTCCTCCCCATCACAGCGC	0.572000													27	76					0	0	0.006320	0	0
PCID2	55795	broad.mit.edu	37	13	113852568	113852568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:113852568G>A	ENST00000375457.2	-	3	727	c.131C>T	c.(130-132)cCa>cTa	p.P44L	PCID2_ENST00000375459.1_Missense_Mutation_p.P44L|PCID2_ENST00000246505.5_Missense_Mutation_p.P46L|PCID2_ENST00000337344.4_Missense_Mutation_p.P46L|PCID2_ENST00000375477.1_Missense_Mutation_p.P46L|PCID2_ENST00000351317.3_Missense_Mutation_p.P46L|PCID2_ENST00000375479.2_Missense_Mutation_p.P46L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	46					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTTCTCCTCTGGAGAGGCCAT	0.358000													60	85					0	0	0.003610	0	0
CLCN4	1183	broad.mit.edu	37	X	10176261	10176261	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:10176261C>T	ENST00000380833.4	+	9	1411	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	CLCN4_ENST00000421085.2_Silent_p.V246V|CLCN4_ENST00000380829.1_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	340						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTTGGGGTCTTCGGGGGCT	0.577000													62	39					0	0	0.003610	0	0
TTC8	123016	broad.mit.edu	37	14	89305844	89305844	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:89305844G>C	ENST00000338104.6	+	2	215	c.163G>C	c.(163-165)Gat>Cat	p.D55H	TTC8_ENST00000346301.4_Missense_Mutation_p.D55H|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Missense_Mutation_p.D65H|TTC8_ENST00000345383.5_Missense_Mutation_p.D55H			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	65					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGTATACATAGATGAAATTGA	0.328000													20	40					0	0	0.010504	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389464	6389464	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6389464G>A	ENST00000394456.5	-	4	781	c.317C>T	c.(316-318)tCa>tTa	p.S106L	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S78L|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	106					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTCCTGCCTGATTTGCCGTT	0.612000													44	77					0	0	0.002852	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231803	142231803	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:142231803G>A	ENST00000519067.1	-	2	453	c.150C>T	c.(148-150)ttC>ttT	p.F50F	SLC45A4_ENST00000024061.3_Silent_p.F50F|SLC45A4_ENST00000517878.1_Silent_p.F101F|SLC45A4_ENST00000433583.2_Silent_p.F43F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	101					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGAGAGGTGTGAAGATGAGGC	0.652000													33	54					0	0	0.004878	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725010	7725010	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:7725010G>A	ENST00000303635.7	+	9	2610	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	CAMTA1_ENST00000439411.2_Silent_p.T801T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGACAGCACGGCGCTCTCAC	0.652000			T	WWTR1	epitheliod hemangioendothelioma								95	178					0	0	0.003610	0	0
AGMAT	79814	broad.mit.edu	37	1	15909809	15909809	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:15909809G>A	ENST00000375826.3	-	2	496	c.354C>T	c.(352-354)tcC>tcT	p.S118S	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	118					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCATGAGGGACTGGAAGG	0.527000													16	41					0	0	0.004990	0	0
MYH1	4619	broad.mit.edu	37	17	10400388	10400388	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10400388C>T	ENST00000226207.5	-	33	4748	c.4654G>A	c.(4654-4656)Gag>Aag	p.E1552K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1552						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGCTTACCTCTGCCTCCTCT	0.368000													6	39					0	0	0.003080	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994065	106994065	+	RNA	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106994065C>A	ENST00000390624.2	-	0	178																											AGGGACCCCCCAGGCTGTACC	0.582000													44	90					3.48956e-15	4.04006e-15	0.003610	1	0
CYP4A11	1579	broad.mit.edu	37	1	47395896	47395896	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47395896G>A	ENST00000310638.4	-	12	1482	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.P485L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	484					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GATCCTGGTGGGATCAGGCAG	0.562000													42	58					0	0	0.009718	0	0
ITPR2	3709	broad.mit.edu	37	12	26784916	26784916	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:26784916G>A	ENST00000381340.3	-	22	3233	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	939					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCTCATGGGGAAGATGGAGC	0.547000													37	115					0	0	0.009718	0	0
C17orf70	80233	broad.mit.edu	37	17	79517625	79517625	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:79517625C>T	ENST00000537152.1	-	3	967	c.442G>A	c.(442-444)Gag>Aag	p.E148K	C17orf70_ENST00000327787.8_Missense_Mutation_p.E299K	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	299					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGAAAATTCTCTGCAGCTTCT	0.582000													14	56					0	0	0.004007	0	0
CLVS2	134829	broad.mit.edu	37	6	123369853	123369853	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:123369853C>T	ENST00000275162.4	+	4	1986	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CLVS2_ENST00000368438.1_Silent_p.F71F	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	217	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCCGGCCTTTCCTGAAGGAGA	0.393000													56	114					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82579685	82579685	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:82579685C>T	ENST00000423517.2	-	6	10556	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_ENST00000333891.8_Missense_Mutation_p.E3407K|PCLO_ENST00000437081.1_Missense_Mutation_p.E127K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3338					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGTTTTTCCTCTTTCACA	0.418000													55	35					0	0	0.003610	0	0
TF	7018	broad.mit.edu	37	3	133495981	133495981	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:133495981C>G	ENST00000402696.3	+	16	2446	c.1961C>G	c.(1960-1962)aCa>aGa	p.T654R	TF_ENST00000264998.3_Missense_Mutation_p.T527R	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	654	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGAGATGACACAGTATGTTTG	0.428000													23	34					0	0	0.002780	0	0
COL6A6	131873	broad.mit.edu	37	3	130282241	130282241	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:130282241C>T	ENST00000358511.6	+	2	425	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P132S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	132	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAACAGTTTCCCCCAATTCT	0.502000													12	28					0	0	0.001368	0	0
RETNLB	84666	broad.mit.edu	37	3	108475427	108475427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:108475427G>A	ENST00000295755.6	-	2	334	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	RETNLB_ENST00000482939.1_5'UTR	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	46					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATAGGAGAGGGACTGTACTCT	0.512000													24	46					0	0	0.004656	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752678	62752678	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:62752678G>A	ENST00000331425.6	-	0	757					NR_003952.1																						TCTCCAGTATGAATTCTCTTA	0.428000													6	26					0	0	0.001984	0	0
MGST3	4259	broad.mit.edu	37	1	165619140	165619140	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:165619140T>C	ENST00000367889.3	+	2	496	c.56T>C	c.(55-57)tTt>tCt	p.F19S	MGST3_ENST00000367883.1_Missense_Mutation_p.F33S|MGST3_ENST00000367884.1_Missense_Mutation_p.F19S|MGST3_ENST00000367885.1_Missense_Mutation_p.F33S|MGST3_ENST00000367888.4_Missense_Mutation_p.F19S|MGST3_ENST00000404549.1_Missense_Mutation_p.F33S|MGST3_ENST00000367886.2_Missense_Mutation_p.F33S	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	19					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	GCTGCCAGCTTTATAATGGTG	0.517000													12	47					0	0	0.001855	0	0
GPR98	84059	broad.mit.edu	37	5	90101267	90101267	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:90101267C>T	ENST00000405460.2	+	72	14924	c.14828C>T	c.(14827-14829)cCa>cTa	p.P4943L	GPR98_ENST00000425867.2_Missense_Mutation_p.P604L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4943					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)		AACATGACCCCAACACTGGGT	0.448000													15	51					0	0	0.004007	0	0
CTIF	9811	broad.mit.edu	37	18	46284741	46284741	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:46284741T>A	ENST00000256413.3	+	8	1331	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	CTIF_ENST00000382998.4_Missense_Mutation_p.S346T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	346					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCTCCAGTCTTCCAAAGACAG	0.522000													111	195					0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969116	47969116	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47969116C>T	ENST00000289672.2	-	7	795	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	249					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCGGAAGGCCGTGGGAGCTG	0.622000													8	31					0	0	0.003080	0	0
CELA3A	10136	broad.mit.edu	37	1	22333383	22333383	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:22333383C>T	ENST00000290122.3	+	5	394	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGACATCGCCCTCATCAAGC	0.622000													24	63					0	0	0.005443	0	0
FAT4	79633	broad.mit.edu	37	4	126336719	126336719	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:126336719G>A	ENST00000394329.3	+	5	6614	c.6601G>A	c.(6601-6603)Gaa>Aaa	p.E2201K	FAT4_ENST00000335110.5_Missense_Mutation_p.E499K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2201	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCAATCAGGAATTTCGGAT	0.433000													20	71					0	0	0.001882	0	0
KIAA1109	84162	broad.mit.edu	37	4	123237932	123237932	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123237932G>A	ENST00000264501.4	+	62	10958	c.10585G>A	c.(10585-10587)Gga>Aga	p.G3529R	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3529R|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3529R			Q2LD37	K1109_HUMAN	KIAA1109	3529					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						TAGCCAGCCGGGAGAACTTAG	0.408000													10	56					0	0	0.006214	0	0
ETNPPL	64850	broad.mit.edu	37	4	109680978	109680978	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:109680978T>C	ENST00000296486.3	-	3	416	c.262A>G	c.(262-264)Att>Gtt	p.I88V	ETNPPL_ENST00000512646.1_Missense_Mutation_p.I30V|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I48V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I82V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TACTCAACAATGTTGTCGTGG	0.443000													16	28					0	0	0.004990	0	0
TCF23	150921	broad.mit.edu	37	2	27372124	27372124	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27372124G>C	ENST00000296096.5	+	1	253	c.123G>C	c.(121-123)agG>agC	p.R41S	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	41					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGACAAGGCAGGACCCGT	0.662000													3	6					0	0	0.004672	0	0
ACSL5	51703	broad.mit.edu	37	10	114164293	114164293	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:114164293G>A	ENST00000393081.1	+	4	597	c.290G>A	c.(289-291)aGa>aAa	p.R97K	ACSL5_ENST00000354655.4_Missense_Mutation_p.R97K|ACSL5_ENST00000354273.4_Missense_Mutation_p.R97K|ACSL5_ENST00000433418.1_Missense_Mutation_p.R97K|ACSL5_ENST00000356116.1_Missense_Mutation_p.R153K|ACSL5_ENST00000479936.1_3'UTR	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	97					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTGGGATATAGAAAACCAAAC	0.368000													8	11					0	0	0.006214	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7150120	7150120	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7150120A>C	ENST00000573600.1	-	5	771	c.350T>G	c.(349-351)tTc>tGc	p.F117C	CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.F117C|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.F117C			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	117	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CACTTCCAGGAAGAAATCCAC	0.483000													55	189					0	0	0.003610	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271574	26271574	+	Silent	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26271574A>C	ENST00000305910.3	-	1	38	c.39T>G	c.(37-39)ggT>ggG	p.G13G		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	13					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCGCTTTGCCACCGGTGGACT	0.607000													13	38					0	0	0.001855	0	0
A2ML1	144568	broad.mit.edu	37	12	8976444	8976444	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8976444G>A	ENST00000299698.7	+	3	555	c.375G>A	c.(373-375)caG>caA	p.Q125Q	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTTTGTACAGACTGACAAAC	0.502000													25	49					0	0	0.008361	0	0
GHDC	84514	broad.mit.edu	37	17	40343101	40343101	+	Silent	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40343101A>T	ENST00000301671.8	-	5	1458	c.1017T>A	c.(1015-1017)ctT>ctA	p.L339L	GHDC_ENST00000414034.3_Silent_p.L339L|GHDC_ENST00000428494.2_Silent_p.L300L|GHDC_ENST00000593209.1_Silent_p.L339L|GHDC_ENST00000587427.1_Silent_p.L339L|GHDC_ENST00000436923.2_Silent_p.L339L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	339						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTCGGCCAAAAGGAGGGTGG	0.662000													12	57					0	0	0.000978	0	0
CCDC150	284992	broad.mit.edu	37	2	197530331	197530331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:197530331C>T	ENST00000389175.4	+	6	821	c.686C>T	c.(685-687)tCt>tTt	p.S229F	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	229										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTAGGGAATCTTTAGAGAAA	0.403000													4	16					0	0	0.000602	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630379	122630379	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122630379A>T	ENST00000195173.4	-	21	3347	c.3044T>A	c.(3043-3045)aTc>aAc	p.I1015N	SEMA5B_ENST00000357599.3_Missense_Mutation_p.I1017N|SEMA5B_ENST00000451055.2_Missense_Mutation_p.I1071N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1017					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCTGGCAGGATGACTGCAGG	0.647000													7	29					0	0	0.001984	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	61					0	0	0.009096	0	0
STX19	415117	broad.mit.edu	37	3	93733721	93733721	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:93733721C>T	ENST00000315099.2	-	2	649	c.393G>A	c.(391-393)agG>agA	p.R131R	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	131					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATTTAAGTATCCTTGTGACCA	0.353000													37	95					0	0	0.005524	0	0
DSP	1832	broad.mit.edu	37	6	7568089	7568089	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7568089G>A	ENST00000379802.3	+	10	1557	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	DSP_ENST00000418664.2_Missense_Mutation_p.D406N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	406	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTACCCCTGCGACAAGAACAT	0.532000													11	27					0	0	0.000978	0	0
UNC79	57578	broad.mit.edu	37	14	94083628	94083628	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94083628C>T	ENST00000553484.1	+	29	4422	c.4268C>T	c.(4267-4269)gCc>gTc	p.A1423V	UNC79_ENST00000256339.4_Missense_Mutation_p.A1224V|UNC79_ENST00000393151.2_Missense_Mutation_p.A1401V|UNC79_ENST00000555664.1_Missense_Mutation_p.A1401V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1401						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTTGAAGGCCTTGCTTGTC	0.498000													30	70					0	0	0.002096	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069795	114069795	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:114069795G>A	ENST00000462705.1	-	11	1732	c.911C>T	c.(910-912)tCg>tTg	p.S304L	ZBTB20_ENST00000481632.1_Missense_Mutation_p.S304L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S304L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S304L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S304L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S304L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S377L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGACGCCCGAGTCGAAGCT	0.647000													12	36					0	0	0.001368	0	0
COL6A3	1293	broad.mit.edu	37	2	238283548	238283548	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:238283548C>T	ENST00000295550.4	-	8	3638	c.3186G>A	c.(3184-3186)caG>caA	p.Q1062Q	COL6A3_ENST00000472056.1_Silent_p.Q455Q|COL6A3_ENST00000347401.3_Silent_p.Q861Q|COL6A3_ENST00000392003.2_Silent_p.Q655Q|COL6A3_ENST00000392004.3_Silent_p.Q856Q|COL6A3_ENST00000346358.4_Silent_p.Q862Q|COL6A3_ENST00000409809.1_Silent_p.Q856Q|COL6A3_ENST00000353578.4_Silent_p.Q856Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1062	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCCGGTCCTGGCCCACAT	0.587000													15	29					0	0	0.004990	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529823	5529823	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5529823C>T	ENST00000311659.4	-	2	1113	c.966G>A	c.(964-966)ggG>ggA	p.G322G	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	322										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTGATCCCCATCCTGCC	0.512000													23	38					0	0	0.001882	0	0
LUZP2	338645	broad.mit.edu	37	11	24750779	24750779	+	Missense_Mutation	SNP	C	C	T	rs150458536		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:24750779C>T	ENST00000336930.6	+	2	193	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	43						extracellular region		p.R43C(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACCATTCTTCGTCAGCTGAC	0.433000													30	48					0	0	0.008361	0	0
CA3	761	broad.mit.edu	37	8	86352060	86352060	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:86352060G>A	ENST00000285381.2	+	2	237	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	52					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGTCTTATGATGGTGGCTC	0.463000													16	46					0	0	0.004007	0	0
TSKS	60385	broad.mit.edu	37	19	50248617	50248617	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50248617C>T	ENST00000246801.3	-	7	1111	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	TSKS_ENST00000358830.3_Silent_p.Q143Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	343							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTCCTCCTGATGCCACC	0.701000													5	5					0	0	0.000602	0	0
MUC5B	727897	broad.mit.edu	37	11	1271167	1271167	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1271167C>T	ENST00000447027.1	+	31	13124	c.13066C>T	c.(13066-13068)Ccc>Tcc	p.P4356S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P4353S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4353	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAATCCACCCCTCCTCCAC	0.647000													19	47					0	0	0.008871	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818118	96818118	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96818118C>T	ENST00000371270.3	-	5	887	c.793G>A	c.(793-795)Gat>Aat	p.D265N	CYP2C8_ENST00000535898.1_Missense_Mutation_p.D163N|CYP2C8_ENST00000539050.1_Missense_Mutation_p.D179N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	265					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.D265N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGGAAGCAATCGATAAAGTCC	0.358000													21	29					0	0	0.002780	0	0
C6orf58	352999	broad.mit.edu	37	6	127899834	127899834	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:127899834G>A	ENST00000329722.7	+	2	317	c.305G>A	c.(304-306)aGa>aAa	p.R102K	C6orf58_ENST00000498112.1_3'UTR	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	102						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCTCCAGGCAGATTAGCTGAT	0.418000													37	114					0	0	0.008740	0	0
OR11H6	122748	broad.mit.edu	37	14	20692283	20692283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20692283G>A	ENST00000315519.2	+	1	493	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATGGCTTATGATCGGTACCT	0.423000													28	93					0	0	0.009535	0	0
ATP10B	23120	broad.mit.edu	37	5	160059330	160059330	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:160059330C>T	ENST00000327245.5	-	13	2272	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	476					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGTCCACTCTTCACCATCT	0.537000													22	79					0	0	0.002780	0	0
MCM4	4173	broad.mit.edu	37	8	48885587	48885587	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:48885587C>T	ENST00000262105.2	+	13	2308	c.2099C>T	c.(2098-2100)cCg>cTg	p.P700L	MCM4_ENST00000523944.1_Missense_Mutation_p.P700L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	700					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCATCATGCCGCGGCTAAGT	0.552000													7	32					0	0	0.001984	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176837	193176837	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:193176837G>A	ENST00000295548.3	-	14	1706	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	ATP13A4_ENST00000342695.4_Intron|ATP13A4_ENST00000392443.3_Intron			Q4VNC1	AT134_HUMAN	ATPase type 13A4	0					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CATTGAAGAAGCTTCTCAGAT	0.453000													25	81					0	0	0.006320	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:20458068G>A	ENST00000426804.1	-	1	3718	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662000													7	38					0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	90101266	90101266	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:90101266C>T	ENST00000405460.2	+	72	14923	c.14827C>T	c.(14827-14829)Cca>Tca	p.P4943S	GPR98_ENST00000425867.2_Missense_Mutation_p.P604S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4943					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)		CAACATGACCCCAACACTGGG	0.443000													14	53					0	0	0.003163	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:106573624G>A	ENST00000407775.2	+	4	585	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFPM2_ENST00000517361.1_5'UTR|ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000													21	32					0	0	0.002299	0	0
CD52	1043	broad.mit.edu	37	1	26644527	26644527	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:26644527C>T	ENST00000374213.2	+	1	80	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000374222.1_Intron	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	7					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CTTCCTCTTCCTCCTACTCAC	0.527000													33	58					0	0	0.005524	0	0
PCSK9	255738	broad.mit.edu	37	1	55518042	55518042	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:55518042C>T	ENST00000302118.5	+	4	905	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000543384.1_Silent_p.F5F	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	205	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCACCGACTTCGAGAATGTGC	0.607000													112	271					0	0	0.003610	0	0
GLB1L	79411	broad.mit.edu	37	2	220108284	220108284	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220108284C>T	ENST00000295759.7	-	2	325	c.12G>A	c.(10-12)aaG>aaA	p.K4K	GLB1L_ENST00000409640.1_Silent_p.K4K|GLB1L_ENST00000392089.2_Silent_p.K4K|GLB1L_ENST00000356283.3_Silent_p.K4K			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	4					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGACAGCTTCTTGGGAGCCA	0.637000													15	45					0	0	0.004990	0	0
KIAA1429	25962	broad.mit.edu	37	8	95550487	95550487	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:95550487C>T	ENST00000297591.5	-	3	342		c.e3+1		KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						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)			CAGGTACATACCTTCCCAACC	0.378000													27	80					0	0	0.002096	0	0
SCN2A	6326	broad.mit.edu	37	2	166243507	166243507	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:166243507G>A	ENST00000357398.3	+	26	5093	c.4803G>A	c.(4801-4803)gtG>gtA	p.V1601V	SCN2A_ENST00000375437.2_Silent_p.V1601V|SCN2A_ENST00000283256.6_Silent_p.V1601V|SCN2A_ENST00000375427.2_Silent_p.V1601V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1601					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTTTGTGGTGGTCATTCTCT	0.333000													25	63					0	0	0.005443	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464385	110464385	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:110464385C>T	ENST00000378402.5	+	42	6487	c.6383C>T	c.(6382-6384)gCt>gTt	p.A2128V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2128	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCACCATAGCTGAAGCCAAA	0.398000										HNSCC(38;0.096)			11	33					0	0	0.000978	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444520	25444520	+	RNA	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:25444520T>G	ENST00000424208.1	+	0	1793				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTTGTCCTGGTTTCCTACACT	0.587000													25	32					0	0	0.002780	0	0
SIRT5	23408	broad.mit.edu	37	6	13612087	13612087	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:13612087C>T	ENST00000606117.1	+	10	1219	c.923C>T	c.(922-924)aCt>aTt	p.T308I	SIRT5_ENST00000359782.3_Missense_Mutation_p.T290I|SIRT5_ENST00000397350.2_Missense_Mutation_p.T200I	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	308	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GAAAATGAAACTGTTTCTTAA	0.438000													80	192					0	0	0.003610	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147685	100147685	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:100147685A>G	ENST00000231461.5	-	5	1256	c.946T>C	c.(946-948)Tat>Cat	p.Y316H		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	316					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATCATAATAATGATATTTG	0.358000													15	33					0	0	0.003163	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671612	8671612	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8671612C>T	ENST00000299665.2	+	4	433	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	80					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAGGGAGCACCTGGAACTGTT	0.398000													7	15					0	0	0.004482	0	0
RASEF	158158	broad.mit.edu	37	9	85677407	85677407	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:85677407G>C	ENST00000376447.3	-	1	636	c.376C>G	c.(376-378)Cgg>Ggg	p.R126G	RASEF_ENST00000340717.4_Missense_Mutation_p.R126G	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	126					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGCCAAGCCCGGCCGGGACTC	0.697000													9	8					0	0	0.002450	0	0
NALCN	259232	broad.mit.edu	37	13	101717830	101717830	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:101717830G>A	ENST00000251127.6	-	40	4611	c.4530C>T	c.(4528-4530)ctC>ctT	p.L1510L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1510						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTAAACAGGAGCTTGTCCT	0.602000													20	71					0	0	0.007413	0	0
CNTN5	53942	broad.mit.edu	37	11	100126511	100126511	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:100126511G>A	ENST00000524871.1	+	17	2315	c.2025G>A	c.(2023-2025)ggG>ggA	p.G675G	CNTN5_ENST00000279463.3_Silent_p.G675G|CNTN5_ENST00000528682.1_Silent_p.G675G|CNTN5_ENST00000418526.2_Silent_p.G601G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.G675G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	675	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCCCACCTGGGATAGTAATTG	0.458000													16	43					0	0	0.006122	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598345	46598345	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46598345G>A	ENST00000398637.5	-	10	1369	c.675C>T	c.(673-675)tcC>tcT	p.S225S	SLC38A1_ENST00000439706.1_Silent_p.S225S|SLC38A1_ENST00000549049.1_Silent_p.S225S|SLC38A1_ENST00000546893.1_Silent_p.S225S|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.S225S	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	225					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACAGCTCAAGGAAAATCCAC	0.299000													55	112					0	0	0.003610	0	0
RTL1	388015	broad.mit.edu	37	14	101351056	101351056	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:101351056C>T	ENST00000534062.1	-	1	128	c.70G>A	c.(70-72)Gag>Aag	p.E24K	MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	24										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCGGAGGACTCCATTTGTTTT	0.542000													8	37					0	0	0.004482	0	0
MYOM3	127294	broad.mit.edu	37	1	24432553	24432553	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:24432553G>A	ENST00000330966.7	-	5	582	c.420C>T	c.(418-420)gtC>gtT	p.V140V	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.V139V|MYOM3_ENST00000329601.7_Silent_p.V139V			Q5VTT5	MYOM3_HUMAN	myomesin 3	139										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCTCCTGGACCTTCTCCT	0.637000													10	21					0	0	0.000978	0	0
MYO7B	4648	broad.mit.edu	37	2	128331611	128331611	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:128331611C>T	ENST00000389524.4	+	7	762	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	MYO7B_ENST00000409816.2_Silent_p.L237L|MYO7B_ENST00000428314.1_Silent_p.L237L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	237	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAATTTCTCCTGGAGAAGTC	0.602000													51	125					0	0	0.003610	0	0
GCKR	2646	broad.mit.edu	37	2	27719829	27719829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:27719829G>A	ENST00000264717.2	+	1	121	c.58G>A	c.(58-60)Gag>Aag	p.E20K	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	20					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGCAAGTGGGAGGTGAGACC	0.527000													17	32					0	0	0.010504	0	0
OSBPL9	114883	broad.mit.edu	37	1	52211292	52211292	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:52211292G>A	ENST00000371710.3	+	5	639	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E135K|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E67K|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E135K|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E118K|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E153K|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E158K|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E38K	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	135					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AATCTTGATTGAACAATTAAA	0.289000													16	22					0	0	0.004990	0	0
CERS3	204219	broad.mit.edu	37	15	101024870	101024870	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:101024870C>T	ENST00000284382.4	-	6	715	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.D98N|CERS3_ENST00000538112.2_Missense_Mutation_p.D98N	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	98						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCATAAATATCAGTCTGAAAA	0.468000													30	24					0	0	0.002836	0	0
CACNA1S	779	broad.mit.edu	37	1	201036090	201036090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:201036090C>T	ENST00000362061.3	-	20	2808	c.2582G>A	c.(2581-2583)gGt>gAt	p.G861D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G861D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	861					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGAAGGAACCCTTGTGCAG	0.597000													4	22					0	0	0.009096	0	0
USP29	57663	broad.mit.edu	37	19	57640389	57640389	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57640389G>A	ENST00000254181.4	+	4	800	c.346G>A	c.(346-348)Gat>Aat	p.D116N	USP29_ENST00000598197.1_Missense_Mutation_p.D116N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	116					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTGATGATGATTGGAGTGT	0.353000													13	38					0	0	0.002450	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898353	99898353	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:99898353G>A	ENST00000547776.2	-	10	1338	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P447S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P27S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	447						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTGAAGGAAATGTATCC	0.388000													10	14					0	0	0.006214	0	0
MOG	4340	broad.mit.edu	37	6	29637982	29637982	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:29637982G>A	ENST00000494692.1	+	6	624	c.624G>A	c.(622-624)aaG>aaA	p.K208K	MOG_ENST00000416766.2_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Silent_p.K208K|MOG_ENST00000376902.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000490427.1_Silent_p.K92K|MOG_ENST00000376894.4_Intron|MOG_ENST00000533330.2_Intron	NM_001008228.2|NM_206811.3	NP_001008229.1|NP_996534.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	223					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCAGGTTAAGGAACCAAAAA	0.463000													18	46					0	0	0.007413	0	0
MAP7	9053	broad.mit.edu	37	6	136687023	136687023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:136687023C>T	ENST00000354570.3	-	10	1533	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	MAP7_ENST00000454590.1_Missense_Mutation_p.E397K|MAP7_ENST00000438100.2_Missense_Mutation_p.E360K|MAP7_ENST00000432797.2_Missense_Mutation_p.E229K|MAP7_ENST00000544465.1_Missense_Mutation_p.E360K	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	375	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ACTTTGACTTCCCTCTTGACA	0.567000													40	66					0	0	0.009718	0	0
EMB	133418	broad.mit.edu	37	5	49724062	49724062	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:49724062C>T	ENST00000303221.5	-	2	328		c.e2-1		EMB_ENST00000506190.1_Splice_Site|EMB_ENST00000508934.1_Splice_Site|EMB_ENST00000514111.1_Splice_Site	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin							integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AAAGGCGAATCTATAAGAGAA	0.328000													13	35					0	0	0.001855	0	0
PYGL	5836	broad.mit.edu	37	14	51390768	51390768	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:51390768G>A	ENST00000216392.7	-	5	911	c.579C>T	c.(577-579)tcC>tcT	p.S193S	PYGL_ENST00000532462.1_Silent_p.S193S|PYGL_ENST00000544180.2_Silent_p.S159S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	193					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATTCTGGGCGGGACTTCTCCC	0.433000													29	58					0	0	0.009535	0	0
MMP1	4312	broad.mit.edu	37	11	102667484	102667484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102667484C>T	ENST00000315274.6	-	4	603	c.536G>A	c.(535-537)gGa>gAa	p.G179E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	179	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AGCAAGATTTCCTCCAGGTCC	0.438000													13	23					0	0	0.002450	0	0
TMC7	79905	broad.mit.edu	37	16	19041653	19041653	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:19041653C>T	ENST00000421369.3	+	6	1047	c.489C>T	c.(487-489)atC>atT	p.I163I	TMC7_ENST00000304381.5_Silent_p.I273I|TMC7_ENST00000569532.1_Silent_p.I273I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	273						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TAAGCACAATCGCCTCCCTGG	0.463000													23	28					0	0	0.002299	0	0
CCR4	1233	broad.mit.edu	37	3	32995348	32995348	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:32995348C>T	ENST00000330953.5	+	2	602	c.434C>T	c.(433-435)tCc>tTc	p.S145F		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	145					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GCGGTGTTTTCCTTGAGGGCA	0.483000													66	121					0	0	0.003610	0	0
GSTM5	2949	broad.mit.edu	37	1	110256339	110256339	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110256339G>A	ENST00000369813.1	+	3	1098	c.193G>A	c.(193-195)Gat>Aat	p.D65N	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D125N|GSTM5_ENST00000256593.3_Missense_Mutation_p.D106N			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	106	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAGGTTATGGATAACCACAT	0.522000													14	16					0	0	0.004990	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194934	18194934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18194934G>A	ENST00000314254.3	+	1	551	c.131G>A	c.(130-132)gGa>gAa	p.G44E	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	44						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGACTGACAGGAAACGCGGTT	0.562000													30	58					0	0	0.002836	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966826	39966826	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:39966826G>A	ENST00000336649.4	+	1	69	c.69G>A	c.(67-69)acG>acA	p.T23T	CACNA1I_ENST00000407673.1_Silent_p.T23T|CACNA1I_ENST00000404898.1_Silent_p.T23T|CACNA1I_ENST00000402142.3_Silent_p.T23T|CACNA1I_ENST00000401624.1_Silent_p.T23T|CACNA1I_ENST00000400164.3_Silent_p.T23T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	23					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAGTCACCACGGAGCAGCCCG	0.692000													10	18					0	0	0.006214	0	0
F8	2157	broad.mit.edu	37	X	154132639	154132639	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:154132639C>T	ENST00000360256.4	-	17	5947	c.5747G>A	c.(5746-5748)aGa>aAa	p.R1916K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1916	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTGCAGTTTCTTTCCATATT	0.408000													95	62					0	0	0.003610	0	0
TMEM135	65084	broad.mit.edu	37	11	87029190	87029190	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:87029190C>T	ENST00000340353.7	+	12	1225	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	TMEM135_ENST00000535167.1_Silent_p.F224F|TMEM135_ENST00000305494.5_Silent_p.F363F|TMEM135_ENST00000532959.1_Silent_p.F234F	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	363						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATGTATTTCAAAGGCATTG	0.378000													12	53					0	0	0.004007	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399051	22399051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:22399051G>A	ENST00000263160.3	+	12	1951	c.1514G>A	c.(1513-1515)tGg>tAg	p.W505*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	505					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAACAACCCTGGGCAGACCCG	0.403000													19	31					0	0	0.006122	0	0
AFF2	2334	broad.mit.edu	37	X	148037297	148037297	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:148037297G>A	ENST00000370460.2	+	11	2201	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	AFF2_ENST00000286437.5_Silent_p.T215T|AFF2_ENST00000342251.3_Silent_p.T541T|AFF2_ENST00000370457.5_Silent_p.T541T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	574					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.T574T(2)|p.T215T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGAAGACGAATGCCAGTC	0.473000													93	45					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				54	23					0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220354205	220354205	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220354205C>T	ENST00000312358.7	+	36	8597	c.8465C>T	c.(8464-8466)tCa>tTa	p.S2822L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2822	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTCAGCCCCTCATCTCCCCCC	0.677000													7	37					0	0	0.001984	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599685	31599685	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31599685C>T	ENST00000376033.2	+	16	3469	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1079S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1079	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.P1079S(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTCCTGCTCCCCGAGGCCG	0.657000													10	17					0	0	0.006214	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42361047	42361047	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42361047C>T	ENST00000290472.3	-	20	2417	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	775	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AAGTCTTCCTCCTTGTAGGTC	0.657000													8	16					0	0	0.006214	0	0
DIP2C	22982	broad.mit.edu	37	10	430065	430065	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:430065G>A	ENST00000280886.6	-	16	1865	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	DIP2C_ENST00000381496.3_Missense_Mutation_p.S486L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	593						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATATCCCTCGATTTCACACA	0.463000													20	41					0	0	0.001882	0	0
THNSL2	55258	broad.mit.edu	37	2	88472870	88472870	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:88472870C>T	ENST00000324166.5	+	1	1892	c.201C>T	c.(199-201)ctC>ctT	p.L67L	THNSL2_ENST00000402102.1_Silent_p.L67L|THNSL2_ENST00000377254.3_Silent_p.L67L|THNSL2_ENST00000358591.2_Silent_p.L67L|THNSL2_ENST00000343544.4_Silent_p.L67L|THNSL2_ENST00000449349.1_Silent_p.L35L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	67					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCTCTGAGCTCCTTCCAAAAG	0.522000													8	36					0	0	0.003080	0	0
SPZ1	84654	broad.mit.edu	37	5	79616671	79616671	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:79616671C>T	ENST00000296739.4	+	1	882	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTGGTAAATCGTTTAGAAGA	0.343000													13	19					0	0	0.002450	0	0
ZNF81	347344	broad.mit.edu	37	X	47775930	47775930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:47775930C>T	ENST00000376954.1	+	6	2253	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	ZNF81_ENST00000338637.7_Nonsense_Mutation_p.Q629*			P51508	ZNF81_HUMAN	zinc finger protein 81	629						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAATAAACATCAGACAATTCA	0.393000													10	5					0	0	0.000978	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616716	77616716	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77616716C>T	ENST00000521891.2	+	2	841	c.393C>T	c.(391-393)atC>atT	p.I131I	ZFHX4_ENST00000050961.6_Silent_p.I131I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.I131I|ZFHX4_ENST00000518282.1_Silent_p.I131I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I131I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGGGAGATCGTTTACCAGC	0.493000										HNSCC(33;0.089)			32	46					0	0	0.008361	0	0
POU5F2	134187	broad.mit.edu	37	5	93076970	93076970	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:93076970G>A	ENST00000510627.4	-	1	373	c.300C>T	c.(298-300)ctC>ctT	p.L100L	FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AGGGCCCCGGGAGGGCGCCTT	0.637000													11	28					0	0	0.000978	0	0
PRDM9	56979	broad.mit.edu	37	5	23526506	23526506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:23526506C>T	ENST00000296682.3	+	11	1491	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	437					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGATCAGAATCAGGAGCAGCA	0.468000										HNSCC(3;0.000094)			17	60					0	0	0.004990	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580453	120580453	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:120580453G>A	ENST00000300648.6	-	44	5699	c.5687C>T	c.(5686-5688)aCc>aTc	p.T1896I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1896					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCAGCTGGGTGTCTGAGCG	0.622000													19	46					0	0	0.002780	0	0
CYP39A1	51302	broad.mit.edu	37	6	46604200	46604200	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46604200T>A	ENST00000275016.2	-	5	861	c.658A>T	c.(658-660)Aag>Tag	p.K220*		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	220					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AGGAACCACTTTTTGGATTTT	0.313000													28	30					0	0	0.002445	0	0
FLT1	2321	broad.mit.edu	37	13	29041073	29041073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:29041073C>T	ENST00000282397.4	-	3	606	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	FLT1_ENST00000541932.1_Missense_Mutation_p.E119K|FLT1_ENST00000539099.1_Missense_Mutation_p.E119K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	119	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATTCTGTTTCCTTCTTCTTT	0.363000													14	46					0	0	0.001855	0	0
XIST	7503	broad.mit.edu	37	X	73066488	73066488	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:73066488C>T	ENST00000429829.1	-	0	6100					NR_001564.2																						GTGGGCACTTCCTGCTGGAAG	0.468000													24	21					0	0	0.003330	0	0
PAK3	5063	broad.mit.edu	37	X	110439124	110439124	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:110439124A>C	ENST00000519681.1	+	16	1670	c.1228A>C	c.(1228-1230)Aag>Cag	p.K410Q	PAK3_ENST00000262836.4_Missense_Mutation_p.K404Q|PAK3_ENST00000360648.4_Missense_Mutation_p.K425Q|PAK3_ENST00000372007.4_Missense_Mutation_p.K389Q|PAK3_ENST00000372010.1_Missense_Mutation_p.K404Q|PAK3_ENST00000518291.1_Missense_Mutation_p.K425Q|PAK3_ENST00000417227.1_Missense_Mutation_p.K410Q|PAK3_ENST00000446737.1_Missense_Mutation_p.K389Q|PAK3_ENST00000425146.1_Missense_Mutation_p.K389Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	404	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGAGATATAAAGAGTGACAA	0.343000										TSP Lung(19;0.15)			59	30					0	0	0.003610	0	0
MTF1	4520	broad.mit.edu	37	1	38281117	38281117	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38281117C>T	ENST00000373036.4	-	11	2093	c.1953G>A	c.(1951-1953)aaG>aaA	p.K651K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	651						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGAGCAGCCCTTTCTCCTGC	0.617000													15	41					0	0	0.002450	0	0
FMO3	2328	broad.mit.edu	37	1	171080030	171080030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:171080030G>A	ENST00000367755.4	+	6	830	c.719G>A	c.(718-720)gGa>gAa	p.G240E	FMO3_ENST00000542847.1_Missense_Mutation_p.G220E|FMO3_ENST00000538429.1_Missense_Mutation_p.G177E|FMO3_ENST00000392085.2_Missense_Mutation_p.G240E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	240					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.G240E(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTCGATTTGGAACCTTCCTC	0.468000													42	81					0	0	0.006999	0	0
ZNF135	7694	broad.mit.edu	37	19	58579610	58579610	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58579610C>T	ENST00000506786.1	+	5	2186	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	ZNF135_ENST00000439855.2_Silent_p.S586S|ZNF135_ENST00000401053.4_Silent_p.S610S|ZNF135_ENST00000313434.5_Silent_p.S586S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.S598S			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGGGAAATCCTTCAGCCACA	0.552000													20	70					0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13719100	13719100	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13719100C>T	ENST00000265104.4	-	72	12494	c.12390G>A	c.(12388-12390)atG>atA	p.M4130I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4130	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCGGTGGTCATCCAGAGGC	0.473000									Kartagener syndrome				34	69					0	0	0.003271	0	0
DENND4A	10260	broad.mit.edu	37	15	65988768	65988768	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:65988768G>A	ENST00000443035.3	-	22	3230	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S	DENND4A_ENST00000431932.2_Silent_p.S962S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAACGATACTGGAAGAATTTT	0.378000													48	19					0	0	0.003610	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724815	140724815	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140724815G>A	ENST00000253812.6	+	1	1215	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCTTAGTGACGGCCACAT	0.453000													22	46					0	0	0.010504	0	0
KMT2A	4297	broad.mit.edu	37	11	118366464	118366464	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:118366464T>A	ENST00000534358.1	+	19	5436	c.5413T>A	c.(5413-5415)Tat>Aat	p.Y1805N	KMT2A_ENST00000389506.5_Missense_Mutation_p.Y1802N|KMT2A_ENST00000354520.4_Missense_Mutation_p.Y1764N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGACCATAATTATGCTCAGTG	0.443000													24	54					0	0	0.002780	0	0
L1TD1	54596	broad.mit.edu	37	1	62675659	62675659	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:62675659G>A	ENST00000498273.1	+	4	1508	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	405	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGGCTggaggaggaggagga	0.542000													24	34					0	0	0.002299	0	0
MYBPC3	4607	broad.mit.edu	37	11	47355234	47355234	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47355234G>A	ENST00000399249.2	-	28	3118	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R1021C|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R1022C			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1021	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGGCTGTTGCGGATGCTCACC	0.622000													14	25					0	0	0.003163	0	0
KCNB2	9312	broad.mit.edu	37	8	73849114	73849114	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:73849114C>T	ENST00000523207.1	+	3	2112	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	508					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGTCTTTCGAGAATAAGT	0.547000													28	91					0	0	0.007291	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683345	9683345	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:9683345G>A	ENST00000330255.4	-	3	290	c.278C>T	c.(277-279)aCc>aTc	p.T93I	DHRS7C_ENST00000571134.1_Missense_Mutation_p.T92I	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	93						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGCTTTGGGGTGAATGTCTG	0.507000													8	12					0	0	0.006214	0	0
C1orf106	55765	broad.mit.edu	37	1	200880585	200880585	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:200880585G>A	ENST00000367342.4	+	9	1419	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C1orf106_ENST00000413687.2_Missense_Mutation_p.D322N	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	407										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCAGGGTGGATTCCTTCCG	0.632000													29	163					0	0	0.009535	0	0
ABRA	137735	broad.mit.edu	37	8	107773536	107773536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:107773536C>T	ENST00000311955.3	-	2	929	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	292					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AGTTTTGGTTCCTTCTTTGGG	0.517000													20	43					0	0	0.010504	0	0
HGD	3081	broad.mit.edu	37	3	120352144	120352144	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120352144G>A	ENST00000283871.5	-	13	1497	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	346					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGTGACCTCGGATGAGTCCCA	0.493000													50	148					0	0	0.003610	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904929	73904929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:73904929G>A	ENST00000342056.2	+	15	3046	c.2648G>A	c.(2647-2649)tGg>tAg	p.W883*	KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.W874*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.W864*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.W754*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.W865*|KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.W864*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.W855*	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	864					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACCCCAAATGGAGGGAATCC	0.502000													23	50					0	0	0.002780	0	0
ANKHD1	54882	broad.mit.edu	37	5	139884528	139884528	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:139884528C>T	ENST00000297183.6	+	16	3251	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1043S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1043S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTGTATCCTTCAGTTGA	0.393000													26	73					0	0	0.006320	0	0
FLOT1	10211	broad.mit.edu	37	6	30698467	30698467	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30698467A>G	ENST00000376389.3	-	10	1163	c.943T>C	c.(943-945)Tct>Cct	p.S315P	FLOT1_ENST00000456573.2_Missense_Mutation_p.S267P	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	315						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						ACCCGCACAGACGCGGCTTCT	0.557000													11	274					0	0	0.002450	0	0
THAP8	199745	broad.mit.edu	37	19	36530864	36530864	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:36530864G>A	ENST00000292894.1	-	2	802	c.258C>T	c.(256-258)tcC>tcT	p.S86S	AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'UTR|THAP8_ENST00000538849.1_Intron	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	86							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGTCCCCGGGAGAAGATGG	0.632000													17	47					0	0	0.007413	0	0
CLTC	1213	broad.mit.edu	37	17	57761064	57761064	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:57761064A>G	ENST00000269122.3	+	27	4544	c.4270A>G	c.(4270-4272)Atg>Gtg	p.M1424V	CLTC_ENST00000579456.1_Missense_Mutation_p.M361V|CLTC_ENST00000393043.1_Missense_Mutation_p.M1424V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1424	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGATTTGCTGATGGTGCTGTC	0.383000			T	"""ALK, TFE3"""	"""ALCL, renal """								16	46					0	0	0.003163	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346639	92346639	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:92346639G>T	ENST00000276609.3	+	6	998	c.759G>T	c.(757-759)agG>agT	p.R253S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.R253S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.R253S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	253						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.R253R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTTTAAAAGGAAAATTAAAG	0.363000													6	34					0.00116845	0.00134124	0.001168	1	0
CR1L	1379	broad.mit.edu	37	1	207850845	207850845	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207850845C>T	ENST00000508064.2	+	2	269	c.209C>T	c.(208-210)tCc>tTc	p.S70F	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	70	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTGGTTATTCCGGAAGACCG	0.473000													52	84					0	0	0.003610	0	0
SMYD4	114826	broad.mit.edu	37	17	1715306	1715306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:1715306G>A	ENST00000305513.7	-	3	405	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	80							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						TCTTTCTCCTGAAATTTTTTG	0.393000													53	84					0	0	0.003610	0	0
NCAN	1463	broad.mit.edu	37	19	19338458	19338458	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:19338458G>A	ENST00000252575.5	+	8	2072	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	NCAN_ENST00000538881.1_Missense_Mutation_p.V128M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	677					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGACCAAGGTGTATTCCCT	0.617000													40	82					0	0	0.006999	0	0
RASGRF2	5924	broad.mit.edu	37	5	80497237	80497237	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80497237G>A	ENST00000265080.4	+	19	2949	c.2882G>A	c.(2881-2883)aGg>aAg	p.R961K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	961					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCCAAGAAAGGAAAGCCGCC	0.413000													20	64					0	0	0.001882	0	0
PWP2	5822	broad.mit.edu	37	21	45540342	45540342	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45540342C>T	ENST00000291576.7	+	11	1429	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	434						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGACCTCATCCATGGACGGGA	0.597000													46	90					0	0	0.003610	0	0
CST8	10047	broad.mit.edu	37	20	23476513	23476513	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:23476513G>A	ENST00000246012.1	+	4	748	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	131						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTGGAATGGTGAATTCACTGT	0.368000													21	62					0	0	0.003954	0	0
CREM	1390	broad.mit.edu	37	10	35437404	35437404	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:35437404C>T	ENST00000333809.8	+	2	207	c.153C>T	c.(151-153)atC>atT	p.I51I	CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Silent_p.I51I|CREM_ENST00000469949.2_Silent_p.I35I|CREM_ENST00000374726.3_Silent_p.I35I|CREM_ENST00000374734.3_Silent_p.I51I|CREM_ENST00000474362.1_Intron|CREM_ENST00000374728.3_Silent_p.I35I|CREM_ENST00000345491.3_Silent_p.I51I|CREM_ENST00000489388.1_Intron|CREM_ENST00000348787.2_Silent_p.I35I|CREM_ENST00000479070.1_Silent_p.I51I|CREM_ENST00000354759.3_Silent_p.I51I|CREM_ENST00000374721.3_Silent_p.I35I|CREM_ENST00000429130.3_Silent_p.I35I|CREM_ENST00000395895.2_Silent_p.I51I|CREM_ENST00000337656.4_Silent_p.I51I|CREM_ENST00000489321.1_Silent_p.I35I	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	51					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						AAAATTCAATCCCTGCTTTAG	0.428000													18	41					0	0	0.007413	0	0
SCN11A	11280	broad.mit.edu	37	3	38888386	38888386	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38888386G>A	ENST00000302328.3	-	26	5373	c.5175C>T	c.(5173-5175)gtC>gtT	p.V1725V	SCN11A_ENST00000456224.3_Silent_p.V1687V|SCN11A_ENST00000450244.1_Silent_p.V1725V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1725					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGTGGTGGTGACTATGGGTT	0.463000													6	154					0	0	0.001984	0	0
GABRG2	2566	broad.mit.edu	37	5	161524745	161524745	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:161524745G>A	ENST00000356592.3	+	4	889	c.429G>A	c.(427-429)ggG>ggA	p.G143G	GABRG2_ENST00000393933.4_Silent_p.G48G|GABRG2_ENST00000414552.2_Silent_p.G143G|GABRG2_ENST00000361925.4_Silent_p.G143G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	143					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACATGGTGGGGAAAATCTGGA	0.408000													28	53					0	0	0.006320	0	0
PLCE1	51196	broad.mit.edu	37	10	96073108	96073108	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96073108G>A	ENST00000260766.3	+	28	6735	c.6101G>A	c.(6100-6102)gGa>gAa	p.G2034E	PLCE1_ENST00000371380.2_Missense_Mutation_p.G2034E|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1726E|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1726E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2034	Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.G2034E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTATTAATGGAGGCACCAAG	0.453000													41	68					0	0	0.003214	0	0
RGL1	23179	broad.mit.edu	37	1	183885623	183885623	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:183885623G>A	ENST00000304685.3	+	17	2358	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	RGL1_ENST00000539189.1_Missense_Mutation_p.D569N|RGL1_ENST00000367531.1_Missense_Mutation_p.D633N|RGL1_ENST00000536277.1_Missense_Mutation_p.D596N|RGL1_ENST00000360851.3_Missense_Mutation_p.D598N	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	598					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCATTCCATGGACACAAATTC	0.502000													28	102					0	0	0.005443	0	0
CDCA5	113130	broad.mit.edu	37	11	64846871	64846871	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64846871G>A	ENST00000275517.3	-	5	804	c.632C>T	c.(631-633)cCa>cTa	p.P211L	CDCA5_ENST00000404147.3_Missense_Mutation_p.P211L	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	211					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TTTCTCGGGTGGTGGGGAGAT	0.572000													15	49					0	0	0.004990	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102468	44102468	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44102468C>T	ENST00000259746.9	+	2	330	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TMEM63B_ENST00000323267.6_Silent_p.F49F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	49						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCTCGACTTCATGTGCTTCC	0.607000													26	70					0	0	0.008361	0	0
COL20A1	57642	broad.mit.edu	37	20	61943346	61943346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:61943346C>T	ENST00000422202.1	+	13	1831	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	COL20A1_ENST00000435874.1_Missense_Mutation_p.P588L|COL20A1_ENST00000326996.6_Missense_Mutation_p.P581L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P581L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	581	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGGGTGCCCCGAGGCCTGTG	0.682000													6	28					0	0	0.001984	0	0
BRINP1	1620	broad.mit.edu	37	9	121971022	121971022	+	Missense_Mutation	SNP	G	G	A	rs112160006		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:121971022G>A	ENST00000265922.3	-	7	1581	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		374					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGGTGGTTGGGATTGTGGCGA	0.562000													13	17					0	0	0.004007	0	0
CPA3	1359	broad.mit.edu	37	3	148600313	148600313	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148600313C>T	ENST00000296046.3	+	8	761	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	237					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAGAAAAAATCGTTCCAAGAA	0.383000													7	19					0	0	0.001984	0	0
PEG3	5178	broad.mit.edu	37	19	57327958	57327958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57327958G>A	ENST00000326441.9	-	10	2215	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Q618*|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Q494*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Q492*|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	618					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACATTTTCTGAAACTCATTA	0.448000													6	19					0	0	0.001168	0	0
WDR52	55779	broad.mit.edu	37	3	113084890	113084890	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:113084890G>A	ENST00000393845.2	-	19	2777	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	WDR52_ENST00000295868.2_Missense_Mutation_p.P904L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	904										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACATACCCTGGGAGATGGAAC	0.289000													35	89					0	0	0.002852	0	0
MGAT1	4245	broad.mit.edu	37	5	180219617	180219617	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:180219617G>A	ENST00000446023.2	-	3	1105	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MGAT1_ENST00000393340.3_Missense_Mutation_p.R119W|MGAT1_ENST00000427865.2_Missense_Mutation_p.R119W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R119W|MGAT1_ENST00000307826.4_Missense_Mutation_p.R119W	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	119					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCAGCGCCGAACAGTGCTG	0.692000													8	21					0	0	0.003080	0	0
PRR23B	389151	broad.mit.edu	37	3	138738846	138738846	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:138738846G>A	ENST00000329447.5	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	220	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGAAGGCGGAATTCCAGG	0.662000													15	35					0	0	0.003163	0	0
CADM3	57863	broad.mit.edu	37	1	159166838	159166838	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:159166838C>T	ENST00000368125.4	+	7	1097	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	CADM3_ENST00000368124.4_Missense_Mutation_p.L348F|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	314	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTACTACACCCTCAATGTTAA	0.493000													4	38					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13865927	13865927	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13865927A>T	ENST00000265104.4	-	27	4309	c.4205T>A	c.(4204-4206)cTt>cAt	p.L1402H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1402	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTCAAGAAGCTGAGGATA	0.328000									Kartagener syndrome				15	40					0	0	0.003163	0	0
ENTPD5	957	broad.mit.edu	37	14	74444066	74444066	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:74444066G>A	ENST00000334696.6	-	7	772	c.453C>T	c.(451-453)atC>atT	p.I151I	ENTPD5_ENST00000557325.1_Silent_p.I151I	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	151					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACTTCCTGAAGATCTCCTTTA	0.413000													14	39					0	0	0.002450	0	0
DHX16	8449	broad.mit.edu	37	6	30638993	30638993	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30638993G>A	ENST00000376442.3	-	2	461	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	89					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTCCAGCAGGGCCCGGGCCTC	0.552000													103	223					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141755373	141755373	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:141755373C>T	ENST00000475668.2	+	28	3384	c.3330C>T	c.(3328-3330)ctC>ctT	p.L1110L	MGAM_ENST00000549489.2_Silent_p.L1110L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1110	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTCAGCTCCTTGGCTTTA	0.458000													109	41					0	0	0.003610	0	0
BMP3	651	broad.mit.edu	37	4	81967371	81967371	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:81967371C>T	ENST00000282701.2	+	2	1116	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	266					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCGGAATTTTCCCACTGGAAC	0.498000													12	67					0	0	0.000978	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73069757	73069757	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:73069757C>T	ENST00000545377.1	+	5	729	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.L185F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.L185F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.L185F|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.L185F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.L185F	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CTTCTTGTGTCTCCCGGGGGG	0.502000													7	11					0	0	0.004482	0	0
SERPINA6	866	broad.mit.edu	37	14	94772531	94772531	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:94772531C>T	ENST00000341584.3	-	4	1055	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	303					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGATGGTGACCTTTGGAATGT	0.552000													17	32					0	0	0.007413	0	0
EMID1	129080	broad.mit.edu	37	22	29622514	29622514	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:29622514G>A	ENST00000334018.6	+	5	627	c.439G>A	c.(439-441)Gag>Aag	p.E147K	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.E147K|EMID1_ENST00000404755.3_Missense_Mutation_p.E147K	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	145						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGAGCTGACAGAGCGGCTGAA	0.637000													11	36					0	0	0.008291	0	0
C2orf66	401027	broad.mit.edu	37	2	197672301	197672301	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:197672301G>A	ENST00000342506.2	-	2	1108	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	74						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						AATGTTCCAAGATCAAGACCT	0.383000													53	111					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24922388	24922388	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:24922388C>T	ENST00000329468.2	+	1	1848	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CATTCACAATCCCTAACTCTC	0.498000													38	58					0	0	0.004289	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6955439	6955439	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrY:6955439C>T	ENST00000383032.1	+	17	2059	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TBL1Y_ENST00000346432.3_Missense_Mutation_p.S471F|TBL1Y_ENST00000355162.2_Missense_Mutation_p.S471F	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	471					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GCTAGTGGATCCTTTGACAAG	0.473000													14	12					0	0	0.004007	0	0
PKD1L1	168507	broad.mit.edu	37	7	47917121	47917121	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47917121G>A	ENST00000289672.2	-	22	3679	c.3629C>T	c.(3628-3630)aCc>aTc	p.T1210I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1210	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACTGAAGACGGTGTGTGCTTC	0.572000													38	69					0	0	0.007835	0	0
CRYGD	1421	broad.mit.edu	37	2	208986442	208986442	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:208986442C>T	ENST00000264376.4	-	3	507	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	160	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTCTGGCATTCGTGGCCCCCC	0.498000													12	39					0	0	0.001368	0	0
CCDC173	129881	broad.mit.edu	37	2	170518802	170518802	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:170518802C>T	ENST00000447353.1	-	5	912	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		GAAACCGTCTCCTGCTTTCAT	0.308000													37	188					0	0	0.002522	0	0
POLA1	5422	broad.mit.edu	37	X	24759606	24759606	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:24759606C>T	ENST00000379068.3	+	21	2374	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	POLA1_ENST00000379059.3_Silent_p.I771I			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	771					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TCACTAACATCGCTGGGAACA	0.383000													20	15					0	0	0.008871	0	0
SPAG8	26206	broad.mit.edu	37	9	35811980	35811980	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:35811980G>A	ENST00000340291.2	-	2	187	c.63C>T	c.(61-63)ccC>ccT	p.P21P	SPAG8_ENST00000396638.2_Silent_p.P21P|SPAG8_ENST00000484764.1_Silent_p.P19P	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	21						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCGGAGCTGGGCTGTATGT	0.572000													21	27					0	0	0.010504	0	0
OR51A7	119687	broad.mit.edu	37	11	4929383	4929383	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4929383C>T	ENST00000359350.4	+	1	784	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCATGCATCACTTTGCCAA	0.488000													63	138					0	0	0.003610	0	0
METTL16	79066	broad.mit.edu	37	17	2323266	2323266	+	Nonstop_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:2323266A>T	ENST00000263092.5	-	10	1814	c.1687T>A	c.(1687-1689)Tag>Aag	p.*563K	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Nonstop_Mutation_p.*345K	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	0							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGAGGTTTCTAGTTAACTGCA	0.493000													17	32					0	0	0.007413	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515777	47515777	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:47515777C>T	ENST00000371901.3	+	12	1711	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CYP4X1_ENST00000538609.1_Silent_p.F486F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	487						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTCTTACTTTCCCCAACCATT	0.448000													29	74					0	0	0.007291	0	0
SVEP1	79987	broad.mit.edu	37	9	113173591	113173591	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:113173591G>C	ENST00000401783.2	-	37	6736	c.6400C>G	c.(6400-6402)Cct>Gct	p.P2134A	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2111A|SVEP1_ENST00000297826.5_Missense_Mutation_p.P60A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2134	Sushi 12.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGGGGGAAGGGTTCCACTGC	0.483000													13	23					0	0	0.001855	0	0
SP140	11262	broad.mit.edu	37	2	231101941	231101941	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:231101941G>A	ENST00000392045.3	+	2	317	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.R68Q|SP140_ENST00000417495.3_Missense_Mutation_p.R68Q|SP140_ENST00000486687.2_Missense_Mutation_p.R68Q|SP140_ENST00000420434.3_Missense_Mutation_p.R68Q|SP140_ENST00000350136.5_Missense_Mutation_p.R48Q|SP140_ENST00000343805.6_Missense_Mutation_p.R68Q	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	68	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGGCCTCCGAGACCGCTCC	0.443000													33	60					0	0	0.006230	0	0
PEMT	10400	broad.mit.edu	37	17	17425608	17425608	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:17425608G>A	ENST00000395781.2	-	3	387	c.306C>T	c.(304-306)ttC>ttT	p.F102F	PEMT_ENST00000395783.1_Silent_p.F65F|PEMT_ENST00000395782.1_Silent_p.F65F|PEMT_ENST00000435340.2_Silent_p.F80F|PEMT_ENST00000255389.5_Silent_p.F102F	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	65					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GCGAGCGCAGGAAGTTCAGGA	0.622000													5	26					0	0	0.001168	0	0
PASD1	139135	broad.mit.edu	37	X	150789486	150789486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:150789486C>T	ENST00000370357.4	+	5	537	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	98	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAAATTTCCTTTACTAAA	0.328000													24	16					0	0	0.004656	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444265	5444265	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5444265G>A	ENST00000300778.4	+	1	925	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTATCATGGCCAATATCTA	0.473000													29	58					0	0	0.008361	0	0
MYPN	84665	broad.mit.edu	37	10	69926302	69926302	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:69926302G>A	ENST00000358913.5	+	10	2340	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	MYPN_ENST00000354393.2_Missense_Mutation_p.V343M|MYPN_ENST00000540630.1_Missense_Mutation_p.V618M	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	618						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCTGGTGTGGTGACCACCAG	0.577000													22	24					0	0	0.002780	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989093	66989093	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:66989093G>A	ENST00000276570.5	+	4	605	c.318G>A	c.(316-318)tcG>tcA	p.S106S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	106					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TCATGCTGTCGAGCTGGTGGG	0.428000													29	61					0	0	0.008361	0	0
MUSK	4593	broad.mit.edu	37	9	113562887	113562887	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:113562887C>G	ENST00000416899.2	+	13	2331	c.2205C>G	c.(2203-2205)gaC>gaG	p.D735E	MUSK_ENST00000189978.5_Missense_Mutation_p.D743E|MUSK_ENST00000374448.4_Missense_Mutation_p.D743E			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	743	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AAATTGCCGACTTTGGCCTCT	0.483000													55	77					0	0	0.003610	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353966	45353966	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:45353966C>T	ENST00000359271.2	+	2	541	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	97						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGCTGGTTCCCTGGCCTGGC	0.632000													44	31					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20944721	20944721	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:20944721C>T	ENST00000261383.3	-	62	12105	c.12106G>A	c.(12106-12108)Gaa>Aaa	p.E4036K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4036					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGAGAGATTCCCCAATCTGC	0.498000													35	46					0	0	0.004878	0	0
GPR98	84059	broad.mit.edu	37	5	89938791	89938791	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:89938791T>C	ENST00000405460.2	+	13	2582	c.2486T>C	c.(2485-2487)cTa>cCa	p.L829P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	829	Calx-beta 6.				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)		ACGGGAGTACTAGAATTTAAA	0.423000													34	81					0	0	0.004878	0	0
MACF1	23499	broad.mit.edu	37	1	39763377	39763377	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:39763377C>T	ENST00000564288.1	+	21	3218	c.2441C>T	c.(2440-2442)aCc>aTc	p.T814I	MACF1_ENST00000539005.1_Missense_Mutation_p.T819I|MACF1_ENST00000567887.1_Missense_Mutation_p.T851I|MACF1_ENST00000545844.1_Missense_Mutation_p.T819I|MACF1_ENST00000361689.2_Missense_Mutation_p.T819I|MACF1_ENST00000317713.7_Missense_Mutation_p.T819I|MACF1_ENST00000372915.3_Missense_Mutation_p.T819I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	819					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCACAACACCAGCTTATCC	0.463000													29	54					0	0	0.007291	0	0
KCNK10	54207	broad.mit.edu	37	14	88658580	88658580	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:88658580C>T	ENST00000340700.5	-	5	1292	c.841G>A	c.(841-843)Gat>Aat	p.D281N	KCNK10_ENST00000312350.5_Missense_Mutation_p.D286N|KCNK10_ENST00000319231.5_Missense_Mutation_p.D286N	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	281					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCCACAAAATCACCAAAGCCC	0.522000													30	49					0	0	0.002096	0	0
ACTL9	284382	broad.mit.edu	37	19	8808763	8808763	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8808763A>G	ENST00000324436.3	-	1	409	c.289T>C	c.(289-291)Ttc>Ctc	p.F97L		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	97						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCGCCGATGAACGTCTGCAGC	0.692000													6	22					0	0	0.001984	0	0
MEP1A	4224	broad.mit.edu	37	6	46801146	46801146	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:46801146G>A	ENST00000230588.4	+	11	1489	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	494	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGGGAGAACGATGCTATCCT	0.473000													47	101					0	0	0.003610	0	0
PASK	23178	broad.mit.edu	37	2	242072401	242072401	+	Nonsense_Mutation	SNP	G	G	A	rs140101325	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:242072401G>A	ENST00000403638.3	-	9	1442	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PASK_ENST00000358649.4_Nonsense_Mutation_p.R451*|PASK_ENST00000234040.4_Nonsense_Mutation_p.R451*|PASK_ENST00000405260.1_Nonsense_Mutation_p.R451*|PASK_ENST00000539818.1_Nonsense_Mutation_p.R235*|PASK_ENST00000544142.1_Nonsense_Mutation_p.R265*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	451					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATCTCATCTCGGGGCACAACG	0.532000													9	47					0	0	0.004482	0	0
TUBB1	81027	broad.mit.edu	37	20	57598904	57598904	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:57598904G>A	ENST00000217133.1	+	4	691	c.422G>A	c.(421-423)gGg>gAg	p.G141E		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	141					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TCCCTGGGCGGGGGCACAGGC	0.592000													32	103					0	0	0.004289	0	0
FAM49A	81553	broad.mit.edu	37	2	16736355	16736355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:16736355C>T	ENST00000381323.3	-	11	1110	c.890G>A	c.(889-891)gGg>gAg	p.G297E	FAM49A_ENST00000355549.2_Missense_Mutation_p.G297E|FAM49A_ENST00000406434.1_Missense_Mutation_p.G297E	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	297						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTTAGCAGCCCCTCCACACT	0.463000													14	38					0	0	0.003163	0	0
ITGB4	3691	broad.mit.edu	37	17	73728296	73728296	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73728296G>A	ENST00000200181.3	+	12	1617	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	ITGB4_ENST00000450894.3_Missense_Mutation_p.G477E|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.G477E|ITGB4_ENST00000449880.2_Missense_Mutation_p.G477E|ITGB4_ENST00000579662.1_Missense_Mutation_p.G477E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	477	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCGTGTGCGGACAGTGTGTG	0.642000													19	36					0	0	0.010504	0	0
KDM3B	51780	broad.mit.edu	37	5	137726747	137726747	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:137726747C>T	ENST00000314358.5	+	8	1626	c.1426C>T	c.(1426-1428)Ctc>Ttc	p.L476F	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.L132F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGGAGCACCTCTCCCTAGTTC	0.443000													22	67					0	0	0.002299	0	0
TMCC2	9911	broad.mit.edu	37	1	205238338	205238338	+	Silent	SNP	C	C	T	rs145697603		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:205238338C>T	ENST00000358024.3	+	3	1397	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	TMCC2_ENST00000329800.7_Silent_p.F96F|TMCC2_ENST00000545499.1_Silent_p.F258F|TMCC2_ENST00000330675.7_Silent_p.F111F|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	336						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAAGTGTTCGAGAAGAAGA	0.567000													5	19					0	0	0.000602	0	0
OTOP3	347741	broad.mit.edu	37	17	72937888	72937888	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:72937888G>A	ENST00000328801.4	+	2	474	c.474G>A	c.(472-474)ggG>ggA	p.G158G		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	158						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCACGCGGGGCCCCTCTGGG	0.682000													4	12					0	0	0.009096	0	0
GBA3	57733	broad.mit.edu	37	4	22749309	22749309	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:22749309C>T	ENST00000508166.1	+	0	779				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCACTTTTTGCGGTCTGGTTG	0.433000													5	148					0	0	0.000602	0	0
CDCP2	200008	broad.mit.edu	37	1	54605439	54605439	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:54605439C>T	ENST00000371330.1	-	4	1951	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	CDCP2_ENST00000530059.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	368	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGATGTAGGCCACAGAGAAGC	0.627000													17	33					0	0	0.004990	0	0
NCOA3	8202	broad.mit.edu	37	20	46281213	46281213	+	Missense_Mutation	SNP	C	C	T	rs148634537		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:46281213C>T	ENST00000372004.3	+	21	4214	c.3998C>T	c.(3997-3999)tCg>tTg	p.S1333L	NCOA3_ENST00000371998.3_Missense_Mutation_p.S1337L|NCOA3_ENST00000341724.6_Missense_Mutation_p.S1263L|NCOA3_ENST00000371997.3_Missense_Mutation_p.S1328L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1337					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAATGATGTCGTCAAGAATG	0.463000													50	44					0	0	0.003610	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772779	140772779	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140772779C>T	ENST00000398604.2	+	1	399	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAAAATTCCAGGTCGAAG	0.423000													23	59					0	0	0.002780	0	0
SPATS1	221409	broad.mit.edu	37	6	44328265	44328265	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44328265G>A	ENST00000288390.2	+	3	717	c.370G>A	c.(370-372)Gat>Aat	p.D124N	SPATS1_ENST00000323108.8_Missense_Mutation_p.D124N			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	124										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTCCAAAAGGATAAATATCC	0.478000													23	61					0	0	0.003330	0	0
MYOZ1	58529	broad.mit.edu	37	10	75399722	75399722	+	Silent	SNP	C	C	T	rs113054407	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75399722C>T	ENST00000359322.4	-	2	418	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	18					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GTTCCATGATCAGCTTGCTGG	0.502000													28	35					0	0	0.006320	0	0
AKAP11	11215	broad.mit.edu	37	13	42875185	42875185	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:42875185A>C	ENST00000025301.2	+	8	2478	c.2303A>C	c.(2302-2304)cAg>cCg	p.Q768P		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	768					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAGTGCAGCAGGCCTTGTTT	0.448000													29	48					0	0	0.008361	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943165	35943165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:35943165C>T	ENST00000490799.1	-	10	1627	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	SLC26A8_ENST00000355574.2_Missense_Mutation_p.G425E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G320E	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	425					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTGTCTTCCTCCAGATTTATC	0.338000													7	17					0	0	0.003080	0	0
ZNF480	147657	broad.mit.edu	37	19	52824896	52824896	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52824896C>T	ENST00000490272.1	+	3	201	c.137C>T	c.(136-138)cCt>cTt	p.P46L	ZNF480_ENST00000335090.6_Silent_p.S54S|ZNF480_ENST00000595962.1_Silent_p.S131S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.S88S			Q8WV37	ZN480_HUMAN	zinc finger protein 480	161	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTGGAGTATCCTTTCACTTAC	0.373000													15	46					0	0	0.004007	0	0
PDE4A	5141	broad.mit.edu	37	19	10577709	10577709	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10577709C>T	ENST00000380702.2	+	16	2007	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P	PDE4A_ENST00000293683.5_Silent_p.P665P|PDE4A_ENST00000352831.6_Silent_p.P691P|PDE4A_ENST00000592685.1_Silent_p.P669P|PDE4A_ENST00000440014.2_Silent_p.P630P|PDE4A_ENST00000344979.3_Silent_p.P452P			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	691	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTCCGCCACCCGAGGAGGAGT	0.607000													11	40					0	0	0.000978	0	0
TNIK	23043	broad.mit.edu	37	3	170895115	170895115	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:170895115G>A	ENST00000436636.2	-	8	1038	c.694_splice	c.e8+1	p.P232_splice	TNIK_ENST00000369326.5_Splice_Site_p.P232_splice|TNIK_ENST00000470834.1_Splice_Site_p.P232_splice|TNIK_ENST00000357327.5_Splice_Site_p.P232_splice|TNIK_ENST00000538048.1_Splice_Site_p.P232_splice|TNIK_ENST00000341852.6_Splice_Site_p.P232_splice|TNIK_ENST00000488470.1_Splice_Site_p.P232_splice|TNIK_ENST00000460047.1_Splice_Site_p.P232_splice|TNIK_ENST00000284483.8_Splice_Site_p.P232_splice|TNIK_ENST00000475336.1_Splice_Site_p.P232_splice	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	232	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTACTTACGGGGAGCACCT	0.498000													5	9					0	0	0.000602	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061051	11061051	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11061051G>A	ENST00000390677.2	-	1	1110	c.847C>T	c.(847-849)Cta>Tta	p.L283L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	283					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCGTTTCCTAGAATCAGAAGA	0.428000													20	24					0	0	0.010504	0	0
CCDC39	339829	broad.mit.edu	37	3	180359902	180359902	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:180359902G>A	ENST00000273654.4	-	19	2624	c.2005C>T	c.(2005-2007)Cta>Tta	p.L669L	CCDC39_ENST00000442201.2_Silent_p.L585L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	585					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTTTTCTAGGGAAAGAACT	0.353000													16	48					0	0	0.003163	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271575	26271575	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26271575C>T	ENST00000305910.3	-	1	37	c.38G>A	c.(37-39)gGt>gAt	p.G13D		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	13					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CGCTTTGCCACCGGTGGACTT	0.602000													14	37					0	0	0.003163	0	0
TRIM61	391712	broad.mit.edu	37	4	165891019	165891019	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:165891019C>T	ENST00000329314.5	-	3	748	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	46						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCATGTAGATCCTTCCAGGAC	0.463000													8	43					0	0	0.008291	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000													15	31					0	0	0.003163	0	0
MAVS	57506	broad.mit.edu	37	20	3838380	3838380	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:3838380C>T	ENST00000428216.2	+	3	344	c.216C>T	c.(214-216)ttC>ttT	p.F72F	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Silent_p.F72F	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	72	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGAGTACTTCATTGCGGCAC	0.627000													33	99					0	0	0.006999	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977624	3977624	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:3977624G>A	ENST00000381638.2	-	24	3629	c.3505C>T	c.(3505-3507)Cct>Tct	p.P1169S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1169							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCAACCGAGGACCGGCCTTG	0.502000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	92					0	0	0.003214	0	0
GRIA1	2890	broad.mit.edu	37	5	153078450	153078450	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153078450G>A	ENST00000285900.5	+	10	1612	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	GRIA1_ENST00000518142.1_Silent_p.K343K|GRIA1_ENST00000448073.4_Silent_p.K433K|GRIA1_ENST00000340592.5_Silent_p.K423K|GRIA1_ENST00000518783.1_Silent_p.K433K|GRIA1_ENST00000521843.2_Silent_p.K354K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	423					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGCTCAAGAAGAACGCCA	0.517000													35	75					0	0	0.008740	0	0
DLEC1	9940	broad.mit.edu	37	3	38103711	38103711	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38103711C>T	ENST00000308059.6	+	4	746	c.725C>T	c.(724-726)tCc>tTc	p.S242F	DLEC1_ENST00000346219.3_Missense_Mutation_p.S242F|DLEC1_ENST00000452631.2_Missense_Mutation_p.S242F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	242					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGAAGCGTTCCGTCCAGAAG	0.463000													24	59					0	0	0.005443	0	0
C1S	716	broad.mit.edu	37	12	7173934	7173934	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7173934G>A	ENST00000406697.1	+	11	1612	c.984G>A	c.(982-984)gtG>gtA	p.V328V	C1S_ENST00000328916.3_Silent_p.V328V|C1S_ENST00000402681.3_Silent_p.V161V|C1S_ENST00000360817.5_Silent_p.V328V			P09871	C1S_HUMAN	complement component 1, s subcomponent	328	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGAAGTTGTGGAGGTAAAGT	0.483000													19	21					0	0	0.010504	0	0
PSG5	5673	broad.mit.edu	37	19	43674288	43674288	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43674288G>A	ENST00000599812.1	-	6	1341	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	PSG5_ENST00000342951.6_Missense_Mutation_p.P323S|PSG5_ENST00000407356.1_Missense_Mutation_p.P323S|PSG5_ENST00000407568.1_Missense_Mutation_p.P145S|PSG5_ENST00000366175.3_Missense_Mutation_p.P323S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	323					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATTCCTGAAGGAGCTGTCATG	0.428000													37	96					0	0	0.007835	0	0
TPT1	7178	broad.mit.edu	37	13	45913690	45913690	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:45913690A>C	ENST00000379056.1	-	3	409	c.239T>G	c.(238-240)tTt>tGt	p.F80C	TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000530705.1_Missense_Mutation_p.F114C|TPT1_ENST00000309246.5_Missense_Mutation_p.F114C|TPT1_ENST00000379055.1_Missense_Mutation_p.F80C|TPT1_ENST00000379060.4_Missense_Mutation_p.F102C			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	114					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CCCTGTCATAAAAGGTTTTAC	0.328000													31	63					0	0	0.003755	0	0
ROGDI	79641	broad.mit.edu	37	16	4847783	4847783	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:4847783G>A	ENST00000322048.7	-	10	1132	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	252						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TTGAGCCAGGGGATCACGCAC	0.662000													26	51					0	0	0.005443	0	0
DIP2C	22982	broad.mit.edu	37	10	486819	486819	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:486819G>A	ENST00000280886.6	-	4	473	c.386C>T	c.(385-387)aCc>aTc	p.T129I	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Missense_Mutation_p.T22I	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	129						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCTGGAGGGGTGTAGGCGTC	0.587000													17	41					0	0	0.007413	0	0
NEB	4703	broad.mit.edu	37	2	152350316	152350316	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152350316C>T	ENST00000427231.2	-	175	24847	c.24645G>A	c.(24643-24645)gtG>gtA	p.V8215V	NEB_ENST00000397336.2_Silent_p.V190V|NEB_ENST00000603639.1_Silent_p.V8215V|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Silent_p.V8215V|NEB_ENST00000172853.10_Silent_p.V6359V|NEB_ENST00000397345.3_Silent_p.V8215V|NEB_ENST00000409198.1_Silent_p.V6359V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6518					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTGCGTTTCACTCTTTCCA	0.398000													5	9					0	0	0.001168	0	0
NLRP2	55655	broad.mit.edu	37	19	55512191	55512191	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55512191C>T	ENST00000543010.1	+	13	3257	c.3114C>T	c.(3112-3114)aaC>aaT	p.N1038N	NLRP2_ENST00000391721.4_Silent_p.N1014N|NLRP2_ENST00000537859.1_Silent_p.N1016N|NLRP2_ENST00000427260.2_Silent_p.N1015N|NLRP2_ENST00000538819.1_Silent_p.N1014N|NLRP2_ENST00000263437.6_Silent_p.N1035N|NLRP2_ENST00000339757.7_Silent_p.N1016N|NLRP2_ENST00000448584.2_Silent_p.N1038N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1038					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAGAAAAAAACCCACAACTGA	0.413000													16	39					0	0	0.003163	0	0
INPP4A	3631	broad.mit.edu	37	2	99156085	99156085	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:99156085C>T	ENST00000074304.5	+	10	1158	c.765C>T	c.(763-765)tcC>tcT	p.S255S	INPP4A_ENST00000523221.1_Silent_p.S255S|INPP4A_ENST00000409851.3_Silent_p.S255S|INPP4A_ENST00000545415.1_Silent_p.S255S|INPP4A_ENST00000409016.3_Silent_p.S255S|INPP4A_ENST00000409540.3_Silent_p.S255S|INPP4A_ENST00000409463.1_Intron	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	255					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCGTGCTCTCCCTGCACGTGC	0.567000													24	45					0	0	0.003954	0	0
DNPEP	23549	broad.mit.edu	37	2	220239733	220239733	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220239733G>A	ENST00000273075.4	-	14	1471	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	DNPEP_ENST00000523282.1_Silent_p.V425V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Silent_p.V342V	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	407					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGTCATTCCGGACCATGAGAT	0.572000													17	40					0	0	0.006122	0	0
CTNND2	1501	broad.mit.edu	37	5	11023081	11023081	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:11023081G>A	ENST00000304623.8	-	17	2988	c.2799C>T	c.(2797-2799)gcC>gcT	p.A933A	CTNND2_ENST00000359640.2_Silent_p.A875A|CTNND2_ENST00000503622.1_Silent_p.A596A|CTNND2_ENST00000511377.1_Silent_p.A842A|CTNND2_ENST00000458100.2_Silent_p.A500A|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	933					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						GGTCTCGCATGGCGTATTTGC	0.507000													19	33					0	0	0.008871	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122525	31122525	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:31122525G>A	ENST00000396268.3	-	4	737	c.549C>T	c.(547-549)atC>atT	p.I183I	CCHCR1_ENST00000396263.2_Silent_p.I94I|CCHCR1_ENST00000376266.5_Silent_p.I94I|CCHCR1_ENST00000451521.2_Silent_p.I147I|CCHCR1_ENST00000480060.1_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	94					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCTGCCGAACGATCACCTCAG	0.642000													12	18					0	0	0.002450	0	0
C9orf84	158401	broad.mit.edu	37	9	114462261	114462261	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:114462261C>T	ENST00000394779.3	-	20	3091	c.2847G>A	c.(2845-2847)ggG>ggA	p.G949G	C9orf84_ENST00000394777.4_Silent_p.G914G|C9orf84_ENST00000318737.4_Silent_p.G988G|C9orf84_ENST00000374287.3_Silent_p.G988G	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	988										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAGTTTAGCCCAAATGAAA	0.308000													27	53					0	0	0.009535	0	0
DAB2IP	153090	broad.mit.edu	37	9	124441046	124441046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:124441046C>T	ENST00000408936.3	+	2	396	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	DAB2IP_ENST00000259371.2_Missense_Mutation_p.P44S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	72					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCCGCCACGCCGTTCCGGGT	0.677000													3	3					0	0	0.000602	0	0
PHF3	23469	broad.mit.edu	37	6	64394787	64394787	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:64394787G>A	ENST00000262043.3	+	4	1504	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E	PHF3_ENST00000509330.1_Silent_p.E388E|PHF3_ENST00000393387.1_Silent_p.E388E			Q92576	PHF3_HUMAN	PHD finger protein 3	388					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAAACTGAGAACACCCTTG	0.378000													20	58					0	0	0.008871	0	0
MAP10	54627	broad.mit.edu	37	1	232943543	232943543	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:232943543C>T	ENST00000418460.1	+	1	2901	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		ATTTCAAAGACTCAGGATAAA	0.363000													18	39					0	0	0.007413	0	0
UBC	7316	broad.mit.edu	37	12	125397113	125397113	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:125397113G>A	ENST00000536769.1	-	1	2781	c.1205C>T	c.(1204-1206)aCc>aTc	p.T402I	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.T326I|UBC_ENST00000339647.5_Missense_Mutation_p.T402I			P0CG48	UBC_HUMAN	ubiquitin C	402	Ubiquitin-like 6.				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)		ATTCTCAATGGTGTCACTCGG	0.542000													78	166					0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10212617	10212617	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10212617C>T	ENST00000418404.3	-	34	5266	c.5103G>A	c.(5101-5103)cgG>cgA	p.R1701R	MYH13_ENST00000570743.1_Silent_p.R1701R|MYH13_ENST00000252172.4_Silent_p.R1701R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1701					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGCGGGTCCGCTCCGTCT	0.657000													15	16					0	0	0.007413	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161272	123161272	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123161272C>T	ENST00000264501.4	+	29	4808	c.4435C>T	c.(4435-4437)Cta>Tta	p.L1479L	KIAA1109_ENST00000388738.3_Silent_p.L1479L|KIAA1109_ENST00000455637.1_Silent_p.L1479L			Q2LD37	K1109_HUMAN	KIAA1109	1479					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						TATAGAACATCTATATATTGT	0.403000													16	32					0	0	0.004007	0	0
ATCAY	85300	broad.mit.edu	37	19	3907802	3907802	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:3907802G>A	ENST00000450849.2	+	5	896	c.429G>A	c.(427-429)acG>acA	p.T143T	ATCAY_ENST00000398448.3_Silent_p.T149T|ATCAY_ENST00000600960.1_Silent_p.T143T|ATCAY_ENST00000301260.6_Silent_p.T143T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGGCACGACGGAGGACGGCA	0.637000													27	47					0	0	0.002096	0	0
GALNT8	26290	broad.mit.edu	37	12	4829865	4829865	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:4829865C>T	ENST00000252318.2	+	1	359	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	8						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGAAACTCCCCAAAGCCCT	0.502000													21	60					0	0	0.003330	0	0
ATP2A2	488	broad.mit.edu	37	12	110784064	110784064	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:110784064C>T	ENST00000395494.2	+	19	3400	c.2837C>T	c.(2836-2838)tCc>tTc	p.S946F	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S973F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S973F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	973					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGAAAATCTCCTTGCCCGTG	0.562000													22	32					0	0	0.003954	0	0
UNK	85451	broad.mit.edu	37	17	73818612	73818612	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73818612C>T	ENST00000293218.3	+	15	2120	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	UNK_ENST00000589666.1_Missense_Mutation_p.S631F			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	631							nucleic acid binding|zinc ion binding	p.S631C(1)|p.S707C(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCTTCTCCCCGGGCACT	0.617000													18	97					0	0	0.010504	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	C	rs121913377		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:140453136A>C	ENST00000288602.6	-	15	1859	c.1799T>G	c.(1798-1800)gTg>gGg	p.V600G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				54	23					0	0	0.003610	0	0
SEPHS1	22929	broad.mit.edu	37	10	13380732	13380732	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:13380732G>A	ENST00000327347.5	-	3	645	c.270C>T	c.(268-270)taC>taT	p.Y90Y	SEPHS1_ENST00000545675.1_Silent_p.Y90Y|SEPHS1_ENST00000378614.4_Silent_p.Y90Y|SEPHS1_ENST00000537130.1_Silent_p.Y23Y|SEPHS1_ENST00000494329.1_5'UTR	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	90					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CTACGATCGGGTAAATGTAAT	0.468000													37	107					0	0	0.008740	0	0
ANKAR	150709	broad.mit.edu	37	2	190593090	190593090	+	Missense_Mutation	SNP	G	G	A	rs139078107	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:190593090G>A	ENST00000520309.1	+	14	3063	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E	ANKAR_ENST00000431575.2_Missense_Mutation_p.G921E|ANKAR_ENST00000313581.4_Missense_Mutation_p.G992E|ANKAR_ENST00000281412.6_Missense_Mutation_p.G767E|ANKAR_ENST00000438402.2_Missense_Mutation_p.G992E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	992						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAACAAATTGGATACAGCTTT	0.323000													18	25					0	0	0.001882	0	0
CHST12	55501	broad.mit.edu	37	7	2472524	2472524	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:2472524C>T	ENST00000258711.6	+	2	385	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	84					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCGACCTTCCCAGAAAGGA	0.677000													23	40					0	0	0.003954	0	0
LIFR	3977	broad.mit.edu	37	5	38506097	38506097	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:38506097G>T	ENST00000263409.4	-	9	1363	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	LIFR_ENST00000453190.2_Missense_Mutation_p.P401T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	401	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTTGATTTGGAAGCATTTGA	0.289000			T	PLAG1	salivary adenoma								24	70					2.98393e-07	3.43796e-07	0.002780	1	0
NPY5R	4889	broad.mit.edu	37	4	164271582	164271582	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164271582C>T	ENST00000515560.1	+	4	1679	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	NPY5R_ENST00000506953.1_Missense_Mutation_p.L53F|NPY5R_ENST00000338566.3_Missense_Mutation_p.L53F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	53					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTGTAAGTCTTCTTGGCTT	0.398000													42	42					0	0	0.006999	0	0
PTGS1	5742	broad.mit.edu	37	9	125144005	125144005	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:125144005G>A	ENST00000362012.2	+	7	746	c.741G>A	c.(739-741)aaG>aaA	p.K247K	PTGS1_ENST00000540753.1_Silent_p.K222K|PTGS1_ENST00000373698.5_Silent_p.K138K|PTGS1_ENST00000223423.4_Silent_p.K247K	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	247					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GGCTCTTTAAGGATGGGAAAC	0.587000													19	17					0	0	0.003954	0	0
A2ML1	144568	broad.mit.edu	37	12	8995744	8995744	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8995744G>A	ENST00000299698.7	+	12	1443	c.1263G>A	c.(1261-1263)atG>atA	p.M421I		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	265						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTTCAAATGGAAGACTTAG	0.453000													22	40					0	0	0.002299	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883623	58883623	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:58883623G>A	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						caggctcagtggcctatcttt	0.572000													28	41					0	0	0.008361	0	0
LECT2	3950	broad.mit.edu	37	5	135283183	135283183	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:135283183A>T	ENST00000274507.1	-	4	493	c.293T>A	c.(292-294)tTt>tAt	p.F98Y	LECT2_ENST00000471827.1_Intron|LECT2_ENST00000512872.1_Missense_Mutation_p.F26Y|LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	98					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGACACAAAAACCTAAAAG	0.274000													10	26					0	0	0.000978	0	0
SERPINC1	462	broad.mit.edu	37	1	173883957	173883957	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:173883957G>A	ENST00000367698.3	-	2	260	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	48					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGATTCATGGGAATGTCCCGC	0.572000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	105					0	0	0.007291	0	0
IL1R1	3554	broad.mit.edu	37	2	102781425	102781425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:102781425C>T	ENST00000410023.1	+	4	571	c.253C>T	c.(253-255)Cct>Tct	p.P85S	IL1R1_ENST00000233946.3_Missense_Mutation_p.P85S|IL1R1_ENST00000409329.1_Missense_Mutation_p.P85S|IL1R1_ENST00000424272.1_Missense_Mutation_p.P85S|IL1R1_ENST00000409929.1_Missense_Mutation_p.P85S|IL1R1_ENST00000409589.1_Missense_Mutation_p.P85S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P85S			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	85	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTGGTTTGTTCCTGCTAAGGT	0.398000													9	36					0	0	0.008291	0	0
FRMD1	79981	broad.mit.edu	37	6	168479606	168479606	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:168479606G>A	ENST00000283309.6	-	1	233	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	57	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCAGCACGAGGACATCCCTG	0.677000													32	54					0	0	0.003755	0	0
MUC17	140453	broad.mit.edu	37	7	100686068	100686068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100686068G>A	ENST00000306151.4	+	3	11435	c.11371G>A	c.(11371-11373)Ggc>Agc	p.G3791S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3791	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)					TGCCTCTGAAGGCAGTTCATC	0.468000													90	34					0	0	0.003610	0	0
EHBP1	23301	broad.mit.edu	37	2	63175992	63175992	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:63175992A>C	ENST00000263991.5	+	14	2598	c.2116A>C	c.(2116-2118)Aag>Cag	p.K706Q	EHBP1_ENST00000405015.3_Missense_Mutation_p.K671Q|EHBP1_ENST00000431489.1_Missense_Mutation_p.K671Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.K671Q|EHBP1_ENST00000354487.3_Missense_Mutation_p.K671Q	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	706						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAGTGATAAGAAGAAGGATAT	0.358000													8	25					0	0	0.003080	0	0
TARBP1	6894	broad.mit.edu	37	1	234595032	234595032	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:234595032G>A	ENST00000040877.1	-	8	1575	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	526					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCCCTCTCAGGAGAATCTGA	0.373000													10	52					0	0	0.001368	0	0
TIMD4	91937	broad.mit.edu	37	5	156378700	156378700	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156378700G>A	ENST00000274532.2	-	3	558	c.502C>T	c.(502-504)Cca>Tca	p.P168S	TIMD4_ENST00000407087.3_Missense_Mutation_p.P168S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	168	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGTTGTTGGAAGTGCAGCT	0.527000													268	596					0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171076868	171076868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:171076868G>A	ENST00000367755.4	+	4	485	c.374G>A	c.(373-375)tGg>tAg	p.W125*	FMO3_ENST00000542847.1_Nonsense_Mutation_p.W105*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.W62*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.W125*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	125					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGGCCAGTGGGATGTTACC	0.398000													9	34					0	0	0.004482	0	0
NCKAP5	344148	broad.mit.edu	37	2	133751808	133751808	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:133751808C>T	ENST00000409261.1	-	7	719	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E116K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E116K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E116K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	116							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTGTTTCTTCCATCCTGAGA	0.343000													6	8					0	0	0.001168	0	0
CADM2	253559	broad.mit.edu	37	3	85984956	85984956	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:85984956C>T	ENST00000383699.3	+	7	1367	c.740C>T	c.(739-741)cCa>cTa	p.P247L	CADM2_ENST00000407528.2_Missense_Mutation_p.P238L|CADM2_ENST00000405615.2_Missense_Mutation_p.P240L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	238	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACTCCTTTTCCACAAGAAGGA	0.284000													41	96					0	0	0.003214	0	0
MUC4	4585	broad.mit.edu	37	3	195517627	195517627	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:195517627C>T	ENST00000463781.3	-	2	1283	c.824G>A	c.(823-825)gGa>gAa	p.G275E	MUC4_ENST00000475231.1_Missense_Mutation_p.G275E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	280					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCCTGGGTTTCCAAGAGTGGA	0.473000													26	41					0	0	0.005443	0	0
LSM11	134353	broad.mit.edu	37	5	157178438	157178438	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:157178438C>T	ENST00000286307.5	+	2	545	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	163					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCGCTGTATCCGTGAGGGGG	0.493000													20	61					0	0	0.007413	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029534	38029534	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:38029534C>T	ENST00000287218.4	+	3	725	c.278C>T	c.(277-279)tCa>tTa	p.S93L	ZFAND3_ENST00000373391.2_Missense_Mutation_p.S93L	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	93							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AATGTAACTTCACCGAGTAAA	0.488000													21	23					0	0	0.001882	0	0
C3orf30	152405	broad.mit.edu	37	3	118867108	118867108	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:118867108G>A	ENST00000295622.1	+	2	1520	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	494										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TATAGTTTATGAAGATCCTTA	0.338000													21	44					0	0	0.001882	0	0
LMNA	4000	broad.mit.edu	37	1	156084913	156084913	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156084913G>A	ENST00000368300.4	+	1	416	c.204G>A	c.(202-204)gaG>gaA	p.E68E	LMNA_ENST00000347559.2_Silent_p.E68E|LMNA_ENST00000368301.2_Silent_p.E68E|LMNA_ENST00000361308.4_Silent_p.E68E|LMNA_ENST00000368299.3_Silent_p.E68E	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	68	Coil 1A.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGTCTGAAGAGGTGGTCAGCC	0.652000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				47	231					0	0	0.003610	0	0
OTOP3	347741	broad.mit.edu	37	17	72943385	72943385	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:72943385G>A	ENST00000328801.4	+	6	1435	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	479						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCACTCTGGGAGACAGTTCC	0.667000													11	11					0	0	0.000978	0	0
AK9	221264	broad.mit.edu	37	6	109867252	109867252	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:109867252A>C	ENST00000424296.2	-	26	3119	c.3043T>G	c.(3043-3045)Tta>Gta	p.L1015V	AK9_ENST00000355283.1_Missense_Mutation_p.L94V|AK9_ENST00000341338.6_Missense_Mutation_p.L94V	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AAAATGTTTAATTTTTCTGCC	0.428000													5	157					0	0	0.001984	0	0
CABIN1	23523	broad.mit.edu	37	22	24456554	24456554	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:24456554A>G	ENST00000398319.2	+	12	1952	c.1567A>G	c.(1567-1569)Acc>Gcc	p.T523A	CABIN1_ENST00000405822.2_Missense_Mutation_p.T473A|CABIN1_ENST00000263119.5_Missense_Mutation_p.T523A	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	523					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGCACAGCACCAGCCTGCC	0.612000													17	37					0	0	0.007413	0	0
ISL1	3670	broad.mit.edu	37	5	50685493	50685493	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:50685493C>T	ENST00000230658.7	+	4	1077	c.492C>T	c.(490-492)tcC>tcT	p.S164S	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.S164S	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	164					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCCCATCTCCGCCAGGCAGC	0.726000													7	19					0	0	0.003080	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905611	54905611	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54905611G>A	ENST00000293373.6	+	8	839	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E204K|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	254					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTGTCTGTGGAAGTAATGGA	0.403000													29	60					0	0	0.003755	0	0
PI4KB	5298	broad.mit.edu	37	1	151288331	151288331	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:151288331G>A	ENST00000368875.2	-	3	1243	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PI4KB_ENST00000368874.4_Silent_p.S209S|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Silent_p.S209S|PI4KB_ENST00000368873.1_Silent_p.S209S|PI4KB_ENST00000271657.5_Silent_p.S221S	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	209					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACACTGGAGGGAAAAGTTAA	0.522000													13	58					0	0	0.002450	0	0
TCTE1	202500	broad.mit.edu	37	6	44249942	44249942	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:44249942C>T	ENST00000371505.4	-	4	1323	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	401										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAGACAGCTCATTGCCACCG	0.597000													22	62					0	0	0.002299	0	0
CCDC129	223075	broad.mit.edu	37	7	31617906	31617906	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:31617906C>G	ENST00000409210.1	+	6	936	c.752C>G	c.(751-753)cCg>cGg	p.P251R	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.P369R|CCDC129_ENST00000407970.3_Missense_Mutation_p.P343R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	343										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCATCTATGCCGGCCAAGCAG	0.498000													9	43					0	0	0.006214	0	0
ATR	545	broad.mit.edu	37	3	142278242	142278242	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:142278242G>A	ENST00000350721.4	-	7	1704	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	ATR_ENST00000383101.3_Missense_Mutation_p.P464L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	528					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CACTACAGAAGGTTTCTTCTT	0.348000								Other conserved DNA damage response genes					15	41					0	0	0.004007	0	0
OR52N2	390077	broad.mit.edu	37	11	5841606	5841606	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:5841606T>A	ENST00000317037.2	+	1	63	c.41T>A	c.(40-42)tTt>tAt	p.F14Y	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGATTCTTTATCTTGAAT	0.512000													30	41					0	0	0.002096	0	0
EPS15	2060	broad.mit.edu	37	1	51831680	51831680	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:51831680A>T	ENST00000371733.3	-	22	2237	c.2141T>A	c.(2140-2142)gTt>gAt	p.V714D	EPS15_ENST00000371730.2_Missense_Mutation_p.V580D|EPS15_ENST00000396122.4_Missense_Mutation_p.V391D	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	714	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATTCCCAAAAACAGAAGCAAA	0.368000			T	MLL	ALL								17	33					0	0	0.002780	0	0
KY	339855	broad.mit.edu	37	3	134329038	134329038	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:134329038G>A	ENST00000508956.1	-	8	892	c.836_splice	c.e8+1	p.L279_splice	KY_ENST00000503669.1_Splice_Site_p.L300_splice|KY_ENST00000423778.2_Splice_Site_p.L300_splice			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	300						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGTACTTACAGGAAGGTGAAT	0.592000													28	62					0	0	0.003271	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254688	61254688	+	Missense_Mutation	SNP	G	G	A	rs146588175		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:61254688G>A	ENST00000338608.2	+	11	1144	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	PPP1R32_ENST00000432063.2_Missense_Mutation_p.R320Q	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	340																	AGGGATCAGCGATACCTGACC	0.532000													31	103					0	0	0.009535	0	0
TARSL2	123283	broad.mit.edu	37	15	102215839	102215839	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:102215839G>A	ENST00000335968.3	-	13	1968	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	584					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCTCCTAGGAAGTTTTCCG	0.423000													73	131					0	0	0.003610	0	0
VCL	7414	broad.mit.edu	37	10	75867093	75867093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:75867093C>T	ENST00000211998.4	+	17	2634	c.2540C>T	c.(2539-2541)cCa>cTa	p.P847L	VCL_ENST00000372755.3_Missense_Mutation_p.P847L|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	847	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCGCCTCCACCAGACCTTGAA	0.502000													15	32					0	0	0.004990	0	0
GPX5	2880	broad.mit.edu	37	6	28501755	28501755	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28501755C>T	ENST00000412168.2	+	5	566	c.477C>T	c.(475-477)ccC>ccT	p.P159P	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	159					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GTCCTCATCCCTCTGAGATTT	0.453000													65	138					0	0	0.003610	0	0
DCLK1	9201	broad.mit.edu	37	13	36700119	36700119	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:36700119G>A	ENST00000255448.4	-	2	367	c.156C>T	c.(154-156)tcC>tcT	p.S52S	DCLK1_ENST00000360631.3_Silent_p.S52S|DCLK1_ENST00000379892.4_Silent_p.S52S	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTTCTTCTCGGAGCTGAGCG	0.582000													12	50					0	0	0.001368	0	0
ANKH	56172	broad.mit.edu	37	5	14711411	14711411	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:14711411C>G	ENST00000284268.6	-	12	1704	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N	ANKH_ENST00000535119.1_Missense_Mutation_p.K260N	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	458					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTCTCCATCTTCTTTTTCT	0.552000													49	127					0	0	0.003610	0	0
RSPH3	83861	broad.mit.edu	37	6	159420903	159420903	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:159420903G>A	ENST00000252655.1	-	1	295	c.106C>T	c.(106-108)Cct>Tct	p.P36S	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.P36S	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	36										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCGGCACAAGGGACTTCCGGC	0.692000													11	37					0	0	0.008291	0	0
NME8	51314	broad.mit.edu	37	7	37936528	37936528	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:37936528G>A	ENST00000199447.4	+	17	1973	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R534Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	534	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAATGGAGACGATTGATGGGC	0.458000													30	74					0	0	0.008361	0	0
PNLIP	5406	broad.mit.edu	37	10	118314748	118314748	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:118314748C>T	ENST00000369221.2	+	7	658	c.630C>T	c.(628-630)ccC>ccT	p.P210P		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	210					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GATTGGACCCCAGCGATGCCA	0.483000													6	21					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158592842	158592842	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158592842C>G	ENST00000368148.3	-	43	6231	c.6051G>C	c.(6049-6051)tgG>tgC	p.W2017C	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.W2014C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2017					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTGTTCCCAGCGCTTCA	0.478000													114	173					0	0	0.003610	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744132	140744132	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140744132C>T	ENST00000518069.1	+	1	235	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGAACCCGCGAAGCGG	0.617000													20	67					0	0	0.001882	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4843076G>A	ENST00000322110.5	+	1	526	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAATGCCCGAATTGCCAAG	0.463000													80	133					0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49694838	49694838	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49694838G>A	ENST00000296452.4	+	5	7963	c.7849G>A	c.(7849-7851)Gaa>Aaa	p.E2617K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2617					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACGGACGACGAAGACAGTGC	0.652000													23	26					0	0	0.003330	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	C	T	rs151204927		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58722282C>T	ENST00000300079.5	+	5	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000													7	32					0	0	0.003080	0	0
FXYD4	53828	broad.mit.edu	37	10	43871008	43871008	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:43871008C>T	ENST00000476166.1	+	6	493	c.159C>T	c.(157-159)atC>atT	p.I53I	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	53						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						TTGCTGGGATCGCGGCAGTTC	0.627000													21	28					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9060306	9060306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9060306C>T	ENST00000397910.4	-	3	27343	c.27140G>A	c.(27139-27141)aGc>aAc	p.S9047N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9049	Ser-rich.|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						CTGATCAGGGCTAGGTCCTCT	0.493000													17	51					0	0	0.004007	0	0
ASIC2	40	broad.mit.edu	37	17	31438965	31438965	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:31438965C>T	ENST00000225823.2	-	2	1701	c.829G>A	c.(829-831)Gat>Aat	p.D277N	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.D226N|RP11-40A13.1_ENST00000584688.1_RNA	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	226					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGGTACTCATCCTGCTGAATG	0.587000													11	61					0	0	0.000978	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581390	196581390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196581390C>T	ENST00000409086.3	+	7	2001	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	SLC39A10_ENST00000541054.1_Nonsense_Mutation_p.R126*|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.R576*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	576					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTGAAGATCGACTTAATGA	0.328000													15	42					0	0	0.006122	0	0
SLC25A20	788	broad.mit.edu	37	3	48921519	48921519	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:48921519G>A	ENST00000319017.4	-	3	435	c.237C>T	c.(235-237)atC>atT	p.I79I	SLC25A20_ENST00000544097.1_Silent_p.I29I|SLC25A20_ENST00000430379.1_Intron	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	79					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TGACCCCGATGATAGGGGCAG	0.488000													31	50					0	0	0.008361	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965788	127965788	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:127965788C>T	ENST00000254730.6	+	2	480	c.426C>T	c.(424-426)gtC>gtT	p.V142V	EEFSEC_ENST00000483457.1_Silent_p.V142V	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	142						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AGAAGCTGGTCGTGGTGCTGA	0.483000													70	153					0	0	0.003610	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928656	10928656	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:10928656C>T	ENST00000283141.6	+	18	1757	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	487						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctccgttcggggtccctg	0.463000													15	39					0	0	0.002450	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307553	46307553	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46307553G>A	ENST00000221538.3	-	3	1752	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	RSPH6A_ENST00000600188.1_Missense_Mutation_p.S273F|RSPH6A_ENST00000597055.1_Missense_Mutation_p.S537F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	537	Glu-rich.					intracellular		p.S537C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTTGGCCATGGAGTCGACCAG	0.662000													29	42					0	0	0.009535	0	0
CADPS2	93664	broad.mit.edu	37	7	121960387	121960387	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:121960387G>A	ENST00000334010.7	-	28	4138	c.3717C>T	c.(3715-3717)acC>acT	p.T1239T	CADPS2_ENST00000313070.7_Silent_p.T1200T|CADPS2_ENST00000412584.2_Silent_p.T1200T|CADPS2_ENST00000449022.2_Silent_p.T1241T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1241					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGTCCCTGTAGGTTTTCTGAA	0.398000													161	69					0	0	0.003610	0	0
FARP1	10160	broad.mit.edu	37	13	99047618	99047618	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99047618C>T	ENST00000376586.2	+	13	1638	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	FARP1_ENST00000319562.6_Silent_p.P434P|FARP1_ENST00000595437.1_Silent_p.P434P			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	434					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAGAAGCCCCGCGGGTAACA	0.692000													10	16					0	0	0.006214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:146741041G>A	ENST00000361727.3	+	4	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)			24	94					0	0	0.005443	0	0
TGM6	343641	broad.mit.edu	37	20	2376014	2376014	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:2376014C>T	ENST00000202625.2	+	3	417	c.356C>T	c.(355-357)tCc>tTc	p.S119F	TGM6_ENST00000381423.1_Missense_Mutation_p.S119F|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	119					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATCAGGCTTTCCTCTCACCGC	0.562000													26	96					0	0	0.009535	0	0
KRT34	3885	broad.mit.edu	37	17	39535320	39535320	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:39535320G>A	ENST00000394001.1	-	6	1141	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	371	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGTCACAGCGGATCTCTGCC	0.622000													25	57					0	0	0.004656	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559046	1559046	+	Missense_Mutation	SNP	C	C	T	rs145977289	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:1559046C>T	ENST00000381605.4	-	2	435	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R123Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R124Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R124Q	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCCCTTTCCGGAACTTCAC	0.542000													65	123					0	0	0.003610	0	0
UXS1	80146	broad.mit.edu	37	2	106746178	106746178	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:106746178G>A	ENST00000283148.7	-	7	626	c.529C>T	c.(529-531)Cct>Tct	p.P177S	UXS1_ENST00000409032.1_Missense_Mutation_p.P4S|UXS1_ENST00000540130.1_Missense_Mutation_p.P115S|UXS1_ENST00000409501.3_Missense_Mutation_p.P172S|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	172					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GTCTTGATAGGATTATACATG	0.378000													6	21					0	0	0.004482	0	0
FBXO40	51725	broad.mit.edu	37	3	121340651	121340651	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:121340651G>A	ENST00000338040.4	+	3	789	c.375G>A	c.(373-375)ttG>ttA	p.L125L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	125					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGAGTGTTTGGACACAGCCC	0.512000													22	37					0	0	0.010504	0	0
RGAG1	57529	broad.mit.edu	37	X	109696046	109696046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:109696046C>T	ENST00000465301.2	+	3	2447	c.2201C>T	c.(2200-2202)tCg>tTg	p.S734L	RGAG1_ENST00000540313.1_Missense_Mutation_p.S734L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	734										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGTCCATGTCGCCCATGAAG	0.527000													24	26					0	0	0.005443	0	0
OR6C1	390321	broad.mit.edu	37	12	55714790	55714790	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:55714790G>A	ENST00000379668.2	+	1	445	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ATCATGAATCGAAGAGTCTGC	0.433000													9	18					0	0	0.006214	0	0
FGGY	55277	broad.mit.edu	37	1	59844482	59844482	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:59844482C>T	ENST00000371218.4	+	5	711	c.527C>T	c.(526-528)tCg>tTg	p.S176L	FGGY_ENST00000303721.7_Missense_Mutation_p.S176L|FGGY_ENST00000371212.1_Missense_Mutation_p.S88L|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	176					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GACTTCTTATCGTGGAAGGCA	0.393000													10	31					0	0	0.008291	0	0
PIGG	54872	broad.mit.edu	37	4	520864	520864	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:520864C>T	ENST00000453061.2	+	10	2212	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	PIGG_ENST00000310340.5_Silent_p.A694A|PIGG_ENST00000504346.1_Silent_p.A613A|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.A569A	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	702					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.L689_A694delLSVLAA(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TCCTGGCTGCCCTCTCCCTCC	0.567000													5	19					0	0	0.001168	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879567	73879567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:73879567C>T	ENST00000342056.2	+	12	2022	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R533*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R523*|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R524*|KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.R523*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R514*	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	523					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AACTGTCATTCGAGCTATCAG	0.393000													15	26					0	0	0.003163	0	0
GLI1	2735	broad.mit.edu	37	12	57860059	57860059	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:57860059G>A	ENST00000228682.2	+	8	890	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GLI1_ENST00000543426.1_Missense_Mutation_p.E139K|GLI1_ENST00000546141.1_Missense_Mutation_p.E226K	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	267					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGAGCGGAAGGAGTTCGTGTG	0.597000													62	145					0	0	0.003610	0	0
BACH2	60468	broad.mit.edu	37	6	90642519	90642519	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:90642519C>T	ENST00000257749.4	-	9	2841	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	BACH2_ENST00000343122.3_Missense_Mutation_p.E712K|BACH2_ENST00000537989.1_Missense_Mutation_p.E712K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	712						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGGCAAACTTCCTGGGAAAGG	0.532000													23	40					0	0	0.001882	0	0
KCTD16	57528	broad.mit.edu	37	5	143586873	143586873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:143586873C>T	ENST00000507359.2	+	2	1687	c.596C>T	c.(595-597)tCc>tTc	p.S199F	KCTD16_ENST00000512467.1_Missense_Mutation_p.S199F	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	199						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GGAAGGATTTCCTTGGCAAAA	0.468000													24	35					0	0	0.002299	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22931039	22931039	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:22931039G>A	ENST00000390302.2	+	0	292																											GGCCTTCAGGGATCTCTGACC	0.498000													89	198					0	0	0.003610	0	0
DOCK2	1794	broad.mit.edu	37	5	169468063	169468063	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:169468063C>T	ENST00000256935.8	+	37	3750	c.3670C>T	c.(3670-3672)Ctg>Ttg	p.L1224L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L716L|DOCK2_ENST00000540750.1_Silent_p.L285L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1224	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGGTACCTGTACAAACT	0.522000													16	47					0	0	0.004990	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939205	14939205	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:14939205G>A	ENST00000313519.5	+	2	589	c.358G>A	c.(358-360)Gga>Aga	p.G120R	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.G180R	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	180					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACCAGCTCCTGGAATCAGCTT	0.368000													32	60					0	0	0.003271	0	0
WDR81	124997	broad.mit.edu	37	17	1637434	1637434	+	Silent	SNP	C	C	T	rs150462855	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:1637434C>T	ENST00000409644.1	+	7	5103	c.5103C>T	c.(5101-5103)ttC>ttT	p.F1701F	WDR81_ENST00000309182.5_Silent_p.F650F|WDR81_ENST00000446363.1_Silent_p.F340F|WDR81_ENST00000419248.1_Silent_p.F474F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.F332F|WDR81_ENST00000437219.2_Silent_p.F498F	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	474										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAGCGTCTTCTTCGTGGGCC	0.677000													19	17					0	0	0.010504	0	0
ZNF133	7692	broad.mit.edu	37	20	18295809	18295809	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:18295809C>T	ENST00000377671.3	+	7	870	c.311C>T	c.(310-312)cCc>cTc	p.P104L	ZNF133_ENST00000396026.3_Missense_Mutation_p.P108L|ZNF133_ENST00000316358.4_Missense_Mutation_p.P105L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P105L|ZNF133_ENST00000402618.2_Missense_Mutation_p.P42L|ZNF133_ENST00000535822.1_Missense_Mutation_p.P10L|ZNF133_ENST00000538547.1_Missense_Mutation_p.P10L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	105						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AATCATCCCCCCTGGATCTTC	0.577000													36	76					0	0	0.003755	0	0
KRT73	319101	broad.mit.edu	37	12	53010152	53010152	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:53010152C>T	ENST00000305748.3	-	2	494	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	154	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTGCTGCTCCAGGAACCGC	0.522000													23	46					0	0	0.003330	0	0
KAT6A	7994	broad.mit.edu	37	8	41832276	41832276	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:41832276G>A	ENST00000396930.3	-	9	1971	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	KAT6A_ENST00000406337.1_Silent_p.I476I|KAT6A_ENST00000485568.1_Silent_p.I476I|KAT6A_ENST00000265713.2_Silent_p.I476I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	476	Interaction with RUNX1-1.				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										TCTCAGTCATGATTTCCTGGC	0.398000													19	45					0	0	0.006122	0	0
DIS3	22894	broad.mit.edu	37	13	73350187	73350187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:73350187G>A	ENST00000377767.4	-	5	798	c.698C>T	c.(697-699)cCc>cTc	p.P233L	DIS3_ENST00000545453.1_Missense_Mutation_p.P71L|DIS3_ENST00000377780.4_Missense_Mutation_p.P203L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	233					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTACTTAAGGGAAGATGCTC	0.353000										Multiple Myeloma(4;0.011)			11	16					0	0	0.000978	0	0
ADAM28	10863	broad.mit.edu	37	8	24200644	24200644	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24200644G>A	ENST00000265769.4	+	17	1971	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E368K|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	621	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTGGATATTGAGAAAGCCTA	0.378000													21	45					0	0	0.003330	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107218782	107218782	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:107218782G>A	ENST00000424969.2	-	0	480																											GCCCTTCACGGAGTCCGCGTA	0.542000													53	118					0	0	0.003610	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517200	158517200	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158517200C>T	ENST00000302617.3	-	1	695	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGAAGGGATCCTGAGGATGG	0.527000													14	59					0	0	0.002450	0	0
PLCL2	23228	broad.mit.edu	37	3	17053022	17053022	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:17053022C>T	ENST00000418129.2	+	2	2271	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	PLCL2_ENST00000396755.2_Silent_p.L602L|PLCL2_ENST00000432376.1_Silent_p.L602L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	728					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTATGTCCTCCGGCCAGCCA	0.488000													19	42					0	0	0.010504	0	0
TBX19	9095	broad.mit.edu	37	1	168282184	168282184	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:168282184G>A	ENST00000367821.3	+	8	1342	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	431					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCCTTCGCGGGCTGGGGTGG	0.617000													6	41					0	0	0.004482	0	0
ERBB2	2064	broad.mit.edu	37	17	37873615	37873615	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:37873615C>T	ENST00000406381.2	+	17	2200	c.1690C>T	c.(1690-1692)Ccc>Tcc	p.P564S	ERBB2_ENST00000445658.2_Missense_Mutation_p.P318S|ERBB2_ENST00000540042.1_Missense_Mutation_p.P564S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P564S|ERBB2_ENST00000584450.1_Missense_Mutation_p.P594S|ERBB2_ENST00000269571.5_Missense_Mutation_p.P594S|ERBB2_ENST00000578199.1_Missense_Mutation_p.P564S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P564S|ERBB2_ENST00000541774.1_Missense_Mutation_p.P579S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	594					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGACCCTCCCTTCTGCGT	0.632000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			5	32					0	0	0.000602	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024225	55024225	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:55024225C>T	ENST00000324000.3	+	3	2418	c.384C>T	c.(382-384)caC>caT	p.H128H		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	128					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTGATGCACTATGATTATT	0.318000													8	59					0	0	0.006214	0	0
E2F3	1871	broad.mit.edu	37	6	20490506	20490506	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:20490506C>T	ENST00000346618.3	+	7	1309	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	E2F3_ENST00000535432.1_Missense_Mutation_p.P284S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	415	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GGACCAAATTCCTTCCAACCT	0.522000													168	313					0	0	0.003610	0	0
C2orf78	388960	broad.mit.edu	37	2	74043122	74043122	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74043122G>A	ENST00000409561.1	+	3	1893	c.1772G>A	c.(1771-1773)gGg>gAg	p.G591E		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	591	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAGCAGTCAGGGAAAAAAGTC	0.443000													10	24					0	0	0.008291	0	0
ATF4	468	broad.mit.edu	37	22	39918324	39918324	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:39918324C>T	ENST00000337304.2	+	2	1655	c.773C>T	c.(772-774)cCc>cTc	p.P258L	ATF4_ENST00000396680.1_Missense_Mutation_p.P258L|ATF4_ENST00000404241.2_Missense_Mutation_p.P258L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	258			P -> A (in dbSNP:rs1803323).		cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TCTGCCCGTCCCAAACCTTAC	0.517000													9	23					0	0	0.001368	0	0
WDR59	79726	broad.mit.edu	37	16	74990485	74990485	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:74990485T>C	ENST00000262144.6	-	3	258	c.128A>G	c.(127-129)aAt>aGt	p.N43S	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	43										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCATCTAGATTGACGATGTA	0.408000													12	19					0	0	0.001368	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623094	20623094	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:20623094G>A	ENST00000525748.1	+	2	696	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	141					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGGCACCCTGGAGCGGAACA	0.662000													15	28					0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9065788	9065788	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9065788C>T	ENST00000397910.4	-	3	21861	c.21658G>A	c.(21658-21660)Gat>Aat	p.D7220N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7222	Ser-rich.|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						ACAGTTGTATCCTCCTGGGTG	0.488000													70	130					0	0	0.003610	0	0
PDHA2	5161	broad.mit.edu	37	4	96761622	96761622	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:96761622C>T	ENST00000295266.4	+	1	384	c.321C>T	c.(319-321)aaC>aaT	p.N107N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	107					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGGCATAAACCCCTCGGATC	0.522000													19	89					0	0	0.007413	0	0
TAOK2	9344	broad.mit.edu	37	16	29998174	29998174	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:29998174A>T	ENST00000308893.4	+	16	3624	c.2581A>T	c.(2581-2583)Att>Ttt	p.I861F	TAOK2_ENST00000543033.1_Missense_Mutation_p.I748F|TAOK2_ENST00000416441.2_Missense_Mutation_p.I688F|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	861	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGAGAGGAGCATTGTTGGCCA	0.577000													11	21					0	0	0.000978	0	0
KIF25	3834	broad.mit.edu	37	6	168431510	168431510	+	Silent	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:168431510C>A	ENST00000443060.2	+	4	541	c.150C>A	c.(148-150)ctC>ctA	p.L50L	KIF25_ENST00000354419.2_Silent_p.L50L|KIF25_ENST00000351261.3_Silent_p.L50L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	50	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCCCTACTCACTTCTCTCT	0.423000													33	72					1.06647e-15	1.23518e-15	0.003755	1	0
ATG4C	84938	broad.mit.edu	37	1	63299789	63299789	+	Splice_Site	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:63299789T>C	ENST00000317868.4	+	8	1219		c.e8+2		ATG4C_ENST00000371120.3_Splice_Site	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase						autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GATTTCAAGGTTAGTGATTTA	0.308000													24	56					0	0	0.002780	0	0
RGAG4	340526	broad.mit.edu	37	X	71350719	71350719	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:71350719G>A	ENST00000545866.1	-	1	1039	c.672C>T	c.(670-672)atC>atT	p.I224I	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.I224I			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	224										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ATTCCTTACGGATTTCATCCA	0.567000													30	20					0	0	0.009535	0	0
ROBO2	6092	broad.mit.edu	37	3	77666749	77666749	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:77666749G>A	ENST00000461745.1	+	22	4279	c.3379G>A	c.(3379-3381)Gat>Aat	p.D1127N	ROBO2_ENST00000487694.3_Missense_Mutation_p.D1143N|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1127N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1127					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAAGATGATGATAGGGTCCC	0.488000													18	73					0	0	0.006122	0	0
IGHG4	3503	broad.mit.edu	37	14	106091498	106091498	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106091498C>T	ENST00000390543.2	-	0	395																											TCCGGGAGATCATGAGAGTGT	0.602000													19	119					0	0	0.002299	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534921	5534921	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:5534921G>A	ENST00000397747.3	+	3	480	c.232G>A	c.(232-234)Gag>Aag	p.E78K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.E78K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	78	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TTTGCTGGAGGAGCAGCTGCC	0.512000													117	28					0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18762521	18762521	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18762521G>A	ENST00000433979.1	+	30	4133	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	PIK3C2G_ENST00000538779.1_Silent_p.E1380E|PIK3C2G_ENST00000266497.5_Silent_p.E1339E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1339	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E1339E(1)|p.V1340V(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TATCCTACGAGGATGTGAAGC	0.363000													4	9					0	0	0.000602	0	0
BCAS3	54828	broad.mit.edu	37	17	58988023	58988023	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:58988023T>G	ENST00000589222.1	+	12	1021	c.953T>G	c.(952-954)aTc>aGc	p.I318S	BCAS3_ENST00000588874.1_Missense_Mutation_p.I89S|BCAS3_ENST00000585744.1_Missense_Mutation_p.I89S|BCAS3_ENST00000588462.1_Missense_Mutation_p.I318S|BCAS3_ENST00000408905.3_Missense_Mutation_p.I318S|BCAS3_ENST00000390652.5_Missense_Mutation_p.I318S|BCAS3_ENST00000407086.3_Missense_Mutation_p.I318S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	318						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTCCCAGGCATCATCACAGTT	0.493000													11	74					0	0	0.003163	0	0
SH2D5	400745	broad.mit.edu	37	1	21049398	21049398	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:21049398G>A	ENST00000375031.1	-	8	1291	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	SH2D5_ENST00000444387.2_Silent_p.L307L|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	223	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACAGGGCCAGGGCACAGGGC	0.662000													5	14					0	0	0.001984	0	0
PNPLA6	10908	broad.mit.edu	37	19	7625908	7625908	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:7625908C>T	ENST00000221249.6	+	33	4142	c.3711C>T	c.(3709-3711)gcC>gcT	p.A1237A	PNPLA6_ENST00000600737.1_Silent_p.A1275A|PNPLA6_ENST00000545201.2_Silent_p.A1210A|PNPLA6_ENST00000450331.3_Silent_p.A1237A|PNPLA6_ENST00000414982.3_Silent_p.A1285A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1276					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTGCTTGCCTTCCCAAGCT	0.637000													4	16					0	0	0.000602	0	0
RFC4	5984	broad.mit.edu	37	3	186515359	186515359	+	Silent	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:186515359T>A	ENST00000392481.2	-	4	536	c.255A>T	c.(253-255)acA>acT	p.T85T	RFC4_ENST00000433496.1_Silent_p.T85T|RFC4_ENST00000296273.2_Silent_p.T85T	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	85					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAATAGTGGATGTTTTTCCAG	0.328000													24	57					0	0	0.005443	0	0
C5orf42	65250	broad.mit.edu	37	5	37181013	37181013	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:37181013G>A	ENST00000274258.7	-	27	5746	c.2159C>T	c.(2158-2160)cCa>cTa	p.P720L	C5orf42_ENST00000508244.1_Missense_Mutation_p.P1839L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1839L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1839										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGTTCCACCTGGAGTTGCTAC	0.403000													11	28					0	0	0.001368	0	0
YIPF4	84272	broad.mit.edu	37	2	32517334	32517334	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:32517334G>A	ENST00000238831.3	+	3	568	c.322G>A	c.(322-324)Gtg>Atg	p.V108M		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	108						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TAATAGACAAGTGGTGAGAGA	0.343000													10	35					0	0	0.000978	0	0
OR5B3	441608	broad.mit.edu	37	11	58170239	58170239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58170239G>A	ENST00000309403.2	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAATGTGTAGGATATCAAGAT	0.403000													12	30					0	0	0.001368	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767855	77767855	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77767855G>A	ENST00000521891.2	+	10	9146	c.8698G>A	c.(8698-8700)Gaa>Aaa	p.E2900K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2855K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2855K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2874K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2855						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGACCGCAGCGAAACGTCCAG	0.512000										HNSCC(33;0.089)			10	34					0	0	0.008291	0	0
DNAH17	8632	broad.mit.edu	37	17	76498998	76498998	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:76498998C>T	ENST00000389840.5	-	32	5164	c.5040G>A	c.(5038-5040)agG>agA	p.R1680R	DNAH17_ENST00000585328.1_Silent_p.R1681R|DNAH17-AS1_ENST00000598378.1_3'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCACTGCTCCCTCGGCTTCT	0.627000													4	28					0	0	0.000602	0	0
FOLH1	2346	broad.mit.edu	37	11	49179553	49179553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:49179553C>T	ENST00000340334.7	-	15	1806	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	FOLH1_ENST00000343844.4_Missense_Mutation_p.E187K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E480K|FOLH1_ENST00000256999.2_Missense_Mutation_p.E495K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E495K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	495	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCCAACTTTCATAAAGAGAT	0.348000													13	31					0	0	0.010504	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143184	48143184	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:48143184G>A	ENST00000405493.2	-	10	1113	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.R344C|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.R344C|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R344C|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R302C|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R302C|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R302C	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	302					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTGATGATACGGTTGAAGTCC	0.582000													20	52					0	0	0.002299	0	0
LCA5	167691	broad.mit.edu	37	6	80223162	80223162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:80223162G>A	ENST00000392959.1	-	4	1098	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	LCA5_ENST00000369846.4_Missense_Mutation_p.R163C|LCA5_ENST00000467898.2_Missense_Mutation_p.R163C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	163					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTGTTATGACGAAATATAAGT	0.353000													27	61					0	0	0.006320	0	0
SSX6	280657	broad.mit.edu	37	X	47969935	47969935	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:47969935C>T	ENST00000376932.2	+	3	212	c.138C>T	c.(136-138)atC>atT	p.I46I	SSX6_ENST00000319275.3_5'UTR																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CGGAGAAAATCAGCTGTGTGC	0.408000													19	10					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9054339	9054339	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9054339C>T	ENST00000397910.4	-	4	31486	c.31283G>A	c.(31282-31284)gGc>gAc	p.G10428D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10430	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						TTCCATAATGCCATCAGTTCC	0.463000													8	18					0	0	0.004482	0	0
CP	1356	broad.mit.edu	37	3	148897413	148897413	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:148897413C>T	ENST00000264613.6	-	15	2853	c.2591G>A	c.(2590-2592)aGa>aAa	p.R864K		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	864	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGCTCCAGATCTTTCTGGGAT	0.363000													17	24					0	0	0.008871	0	0
TIGD3	220359	broad.mit.edu	37	11	65123717	65123717	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:65123717C>T	ENST00000309880.5	+	2	645	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	146					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTTCATTCCCCCCTGAGCCAC	0.617000													35	78					0	0	0.003271	0	0
DCAF6	55827	broad.mit.edu	37	1	167944107	167944107	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:167944107T>G	ENST00000367840.3	+	4	386	c.292T>G	c.(292-294)Ttt>Gtt	p.F98V	DCAF6_ENST00000367843.3_Missense_Mutation_p.F98V|DCAF6_ENST00000312263.6_Missense_Mutation_p.F98V|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.F67V	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	98					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGCAAACATATTTAGTGCAAA	0.338000													10	47					0	0	0.001368	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990703	15990703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15990703C>T	ENST00000221700.5	-	10	1215	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	CYP4F2_ENST00000592328.1_Missense_Mutation_p.D374N	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	374					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCCAGGTCGTCCCTAAGG	0.557000													33	93					0	0	0.005524	0	0
GPR115	221393	broad.mit.edu	37	6	47684583	47684583	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:47684583G>A	ENST00000283303.2	+	7	2232	c.1974_splice	c.e7+1	p.K658_splice	GPR115_ENST00000327753.3_Splice_Site_p.K658_splice|GPR115_ENST00000371220.1_Splice_Site_p.K715_splice	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	658					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGATCACAAGGTAATTTGAA	0.408000													22	38					0	0	0.002299	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872369	57872369	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:57872369C>T	ENST00000393797.2	-	6	893	c.701G>A	c.(700-702)aGa>aAa	p.R234K	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R242K|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R163K|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R163K|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R163K			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	163	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGAGAGGGATCTTCCGCTTGG	0.577000													38	79					0	0	0.006230	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628349	173628349	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:173628349A>T	ENST00000333279.2	-	2	269	c.209T>A	c.(208-210)cTc>cAc	p.L70H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	86										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTCTTCTAAGAGAAGCTGCAT	0.453000													15	55					0	0	0.002450	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141461084	141461084	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:141461084G>A	ENST00000389328.4	-	2	697	c.683C>T	c.(682-684)aCc>aTc	p.T228I	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.T130I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T130I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	130					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGCCACGTCGGTGCGCGGCTG	0.577000													12	30					0	0	0.001855	0	0
IL20RB	53833	broad.mit.edu	37	3	136677029	136677029	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:136677029C>T	ENST00000329582.4	+	1	323	c.74C>T	c.(73-75)cCa>cTa	p.P25L	IL20RB_ENST00000309741.5_5'UTR|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	25						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCATTGATTCCATGTTTGCTC	0.388000													17	59					0	0	0.007413	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958842	50958842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50958842C>T	ENST00000357701.5	+	20	2330	c.2279C>T	c.(2278-2280)cCg>cTg	p.P760L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	760	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGAGGCCTCCGAACAGGATC	0.597000													28	69					0	0	0.008361	0	0
BAHD1	22893	broad.mit.edu	37	15	40751535	40751535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:40751535C>T	ENST00000561234.1	+	2	1131	c.872C>T	c.(871-873)cCa>cTa	p.P291L	BAHD1_ENST00000416165.1_Missense_Mutation_p.P291L|BAHD1_ENST00000560846.1_Missense_Mutation_p.P291L			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	291	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTTGTGGGCCATCCGTCCAG	0.667000													10	45					0	0	0.006214	0	0
OR51G2	81282	broad.mit.edu	37	11	4936874	4936874	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4936874C>T	ENST00000322013.3	-	1	48	c.20G>A	c.(19-21)gGa>gAa	p.G7E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		GCTGCTGTTTCCCAGGGATCC	0.547000													21	40					0	0	0.008871	0	0
PALLD	23022	broad.mit.edu	37	4	169632945	169632945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:169632945G>A	ENST00000335742.7	+	10	2046	c.689G>A	c.(688-690)gGa>gAa	p.G230E	PALLD_ENST00000512127.1_Missense_Mutation_p.G230E|PALLD_ENST00000261509.6_Missense_Mutation_p.G612E|PALLD_ENST00000505667.1_Missense_Mutation_p.G612E			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	612					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAAACGAACGGAGTCCATCCC	0.493000									Pancreatic Cancer, Familial Clustering of				14	52					0	0	0.001855	0	0
MED25	81857	broad.mit.edu	37	19	50331794	50331794	+	Missense_Mutation	SNP	C	C	G	rs137859678		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50331794C>G	ENST00000312865.6	+	4	447	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	132	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CAAGAAGATGCGCGAGCAGAT	0.622000													32	59					0	0	0.009535	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922701	17922701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17922701G>A	ENST00000318683.6	+	3	1036	c.889G>A	c.(889-891)Gat>Aat	p.D297N	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D297N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	297					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCCCATTGATGATGTCTTCCT	0.627000													33	95					0	0	0.004289	0	0
APOC3	345	broad.mit.edu	37	11	116701499	116701499	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:116701499G>A	ENST00000375345.1	+	3	182	c.120G>A	c.(118-120)gaG>gaA	p.E40E	APOC3_ENST00000227667.3_Silent_p.E22E|APOC3_ENST00000470144.1_3'UTR			P02656	APOC3_HUMAN	apolipoprotein C-III	22					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGCTTCAGAGGCCGAGGATG	0.622000													62	119					0	0	0.003610	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21541322	21541322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21541322G>A	ENST00000298694.4	+	2	249	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R41Q			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	41					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGACTTATCGGGAGGACGCA	0.607000													12	25					0	0	0.001855	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783131	1783131	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:1783131C>T	ENST00000539485.1	-	29	4062	c.3829G>A	c.(3829-3831)Ggc>Agc	p.G1277S	ATP8B3_ENST00000310127.6_Missense_Mutation_p.G1267S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.G1230S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1267					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		AGAATTGTGCCCTGAGTGATG	0.562000													8	10					0	0	0.006214	0	0
TCF20	6942	broad.mit.edu	37	22	42611304	42611304	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:42611304G>A	ENST00000359486.3	-	1	144	c.8C>T	c.(7-9)tCc>tTc	p.S3F	TCF20_ENST00000335626.4_Missense_Mutation_p.S3F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTCCCGAAAGGACTGCATACT	0.507000													36	75					0	0	0.005524	0	0
KCNF1	3754	broad.mit.edu	37	2	11053729	11053729	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11053729T>G	ENST00000295082.1	+	1	1667	c.1177T>G	c.(1177-1179)Tgt>Ggt	p.C393G		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	393						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAGCTTCTTGTGTGGTGTCAT	0.597000													9	34					0	0	0.004482	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244107	11244107	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11244107T>C	ENST00000531678.1	-	1	805	c.722A>G	c.(721-723)tAc>tGc	p.Y241C	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	241					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GGACAGAAAGTAAATGGCACA	0.403000													74	56					0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23891523	23891523	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23891523G>A	ENST00000355349.3	-	25	3273	c.3111C>T	c.(3109-3111)tcC>tcT	p.S1037S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1037					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGCTCCAGGGATCCTTCCA	0.552000													21	36					0	0	0.002299	0	0
VWA8	23078	broad.mit.edu	37	13	42393413	42393413	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:42393413A>T	ENST00000379310.3	-	15	1878	c.1810T>A	c.(1810-1812)Ttt>Att	p.F604I	VWA8_ENST00000281496.6_Missense_Mutation_p.F604I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TAATGGAAAAAGAACATGGTT	0.403000													11	35					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10480260	10480260	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10480260G>A	ENST00000382483.3	-	2	675	c.452C>T	c.(451-453)cCc>cTc	p.P151L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	151					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TATCCTCCGGGGGGTTTTAAG	0.582000													29	62					0	0	0.008361	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452892	130452892	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:130452892G>A	ENST00000356763.3	-	4	1507	c.950C>T	c.(949-951)cCt>cTt	p.P317L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	317	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAATATTTCAGGAAAGGCATT	0.423000													34	68					0	0	0.002445	0	0
KIAA0196	9897	broad.mit.edu	37	8	126044520	126044520	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:126044520C>T	ENST00000318410.7	-	27	3647	c.3298G>A	c.(3298-3300)Ggc>Agc	p.G1100S	KIAA0196_ENST00000517845.1_Missense_Mutation_p.G952S	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1100					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATAAACTGGCCAATCAGCGCC	0.537000													36	92					0	0	0.003755	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780804	106780804	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106780804C>T	ENST00000390612.2	-	0	131																											GCAGCTGCACCTGGGACAGGA	0.587000													19	47					0	0	0.003330	0	0
PKD1	5310	broad.mit.edu	37	16	2140185	2140185	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:2140185T>C	ENST00000262304.4	-	46	12663	c.12455A>G	c.(12454-12456)aAa>aGa	p.K4152R	PKD1_ENST00000423118.1_Missense_Mutation_p.K4151R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4152					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCGGACTTTGTGGCGGAA	0.701000													40	35					0	0	0.003214	0	0
MYO1F	4542	broad.mit.edu	37	19	8620543	8620543	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8620543G>A	ENST00000338257.8	-	2	408	c.141_splice	c.e2+1	p.F47_splice		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	47	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCCAGGGTACGAAGATGTAGT	0.617000													26	63					0	0	0.002445	0	0
CD300LG	146894	broad.mit.edu	37	17	41939175	41939175	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:41939175G>A	ENST00000317310.4	+	7	936	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	299						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACTGCGGAGGAAAAGGAAGC	0.602000													7	24					0	0	0.003080	0	0
SLC7A1	6541	broad.mit.edu	37	13	30090380	30090380	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:30090380G>A	ENST00000380752.5	-	12	2067	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	561					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCAGGAAGGGAACCTGAAGA	0.537000													4	26					0	0	0.009096	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409001	56409001	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56409001C>T	ENST00000544374.1	-	1	946	c.918G>A	c.(916-918)aaG>aaA	p.K306K	OR5AP2_ENST00000302981.1_Silent_p.K305K			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TCTTTAGGGCCTTTTTTACAT	0.343000													6	31					0	0	0.001984	0	0
LY75	4065	broad.mit.edu	37	2	160729002	160729002	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160729002C>T	ENST00000263636.4	-	13	2104	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E693K|LY75_ENST00000553424.1_Missense_Mutation_p.E693K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E693K|LY75_ENST00000554112.1_Missense_Mutation_p.E693K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCCTTTATTTCATCCACATGG	0.378000													34	76					0	0	0.003271	0	0
FOXN4	121643	broad.mit.edu	37	12	109719441	109719441	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:109719441G>A	ENST00000299162.5	-	9	1169	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	FOXN4_ENST00000355216.1_Silent_p.S175S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	355					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			large_intestine(5)|lung(9)|ovary(2)	16						CTGACTGCAGGGACAGGGTCA	0.687000													4	10					0	0	0.009096	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214074	140214074	+	Missense_Mutation	SNP	C	C	T	rs141682483		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140214074C>T	ENST00000525929.1	+	1	106	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	PCDHA7_ENST00000378125.3_Missense_Mutation_p.P36S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCGGTCCCCGAGGAGGC	0.627000													33	70					0	0	0.002445	0	0
LY75	4065	broad.mit.edu	37	2	160708785	160708785	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160708785G>A	ENST00000263636.4	-	21	2837	c.2810C>T	c.(2809-2811)tCg>tTg	p.S937L	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S937L|LY75_ENST00000553424.1_Missense_Mutation_p.S937L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S937L|LY75_ENST00000554112.1_Missense_Mutation_p.S937L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTCTCTAACGAAGAAACATT	0.373000													17	41					0	0	0.004007	0	0
CCDC148	130940	broad.mit.edu	37	2	159195377	159195377	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:159195377C>T	ENST00000283233.5	-	7	938	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CCDC148_ENST00000536771.1_Missense_Mutation_p.E123K|CCDC148_ENST00000409187.1_Missense_Mutation_p.E218K|CCDC148_ENST00000409889.1_Missense_Mutation_p.E209K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	209										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGGGCAGTTCACTAAGCGGG	0.303000													18	56					0	0	0.002299	0	0
DUSP7	1849	broad.mit.edu	37	3	52084953	52084953	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:52084953C>T	ENST00000495880.1	-	3	1321	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	DUSP7_ENST00000296483.6_Missense_Mutation_p.D329N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	380					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCTCAAAGTCCAGCAGCTGC	0.552000													30	43					0	0	0.003755	0	0
RIT2	6014	broad.mit.edu	37	18	40323574	40323574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:40323574C>T	ENST00000326695.5	-	5	709	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	180					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.E180K(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGCGAATTTCCCTCACTAAG	0.423000													27	59					0	0	0.006320	0	0
CFTR	1080	broad.mit.edu	37	7	117292956	117292956	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:117292956G>A	ENST00000003084.6	+	24	4066	c.3934G>A	c.(3934-3936)Gat>Aat	p.D1312N	CFTR_ENST00000454343.1_Missense_Mutation_p.D1251N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1312	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAGTGGAGTGATCAAGAAAT	0.333000									Cystic Fibrosis				80	35					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47511087	47511087	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:47511087C>T	ENST00000285039.7	-	8	1246		c.e8+1			NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB						protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAGCTCCTTACCGAGGAGTGT	0.552000													9	41					0	0	0.008291	0	0
CRLF1	9244	broad.mit.edu	37	19	18710608	18710608	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18710608G>A	ENST00000392386.3	-	2	357	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	55	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGCCAGCAGGGAGGAGCCGAT	0.677000													10	13					0	0	0.006214	0	0
DST	667	broad.mit.edu	37	6	56479171	56479171	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:56479171G>A	ENST00000370754.5	-	36	4941	c.4942C>T	c.(4942-4944)Ccc>Tcc	p.P1648S	DST_ENST00000370788.2_Missense_Mutation_p.P1470S|DST_ENST00000421834.2_Missense_Mutation_p.P1470S|DST_ENST00000361203.3_Missense_Mutation_p.P1470S|DST_ENST00000312431.6_Missense_Mutation_p.P1470S|DST_ENST00000446842.2_Missense_Mutation_p.P1144S|DST_ENST00000244364.6_Missense_Mutation_p.P1144S|DST_ENST00000370769.4_Missense_Mutation_p.P1470S			Q03001	DYST_HUMAN	dystonin	1470					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)			TTAGAGAAGGGAGGTTTTCCA	0.358000													12	46					0	0	0.001855	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:5282926G>A	ENST00000546004.1	-	3	1161	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_ENST00000217270.3_Silent_p.F305F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)			30	56					0	0	0.008361	0	0
IGSF21	84966	broad.mit.edu	37	1	18661444	18661444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:18661444G>A	ENST00000251296.1	+	4	747	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	122	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGCATCTACGACCGCGCCAC	0.622000													15	30					0	0	0.003163	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149783087	149783087	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:149783087A>C	ENST00000389942.5	-	3	572	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F109V|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.F109V|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F109V|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F109V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	109						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CGGCAAGAGAAGGTTTCTTTA	0.458000													4	12					0	0	0.009096	0	0
GSTM5	2949	broad.mit.edu	37	1	110257571	110257571	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:110257571G>A	ENST00000369813.1	+	4	1145	c.240G>A	c.(238-240)gaG>gaA	p.E80E	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Silent_p.E140E|GSTM5_ENST00000256593.3_Silent_p.E121E			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	121	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGCCTCAGGAGAAACTGAAGC	0.542000													25	35					0	0	0.003330	0	0
TMEM215	401498	broad.mit.edu	37	9	32784392	32784392	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:32784392G>A	ENST00000342743.5	+	2	576	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	71						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CAAGTGGCCAGAGAACGAGCT	0.607000													21	27					0	0	0.010504	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471545	106471545	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106471545G>A	ENST00000390595.2	-	0	93																											ACCTGGGAGTGGACACCTGTA	0.572000													23	7					0	0	0.002780	0	0
PAQR3	152559	broad.mit.edu	37	4	79847831	79847831	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:79847831G>A	ENST00000512733.1	-	4	759	c.546C>T	c.(544-546)atC>atT	p.I182I	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Silent_p.I182I	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	182						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						ACACTGCCAGGATCATAGCAA	0.408000													25	116					0	0	0.007291	0	0
WDR27	253769	broad.mit.edu	37	6	170062419	170062419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:170062419G>A	ENST00000333572.6	-	9	1525	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.P336S|WDR27_ENST00000423258.1_Missense_Mutation_p.P209S			A2RRH5	WDR27_HUMAN	WD repeat domain 27	306										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCAGAATTTGGGATGAGTGAG	0.413000													29	76					0	0	0.002096	0	0
CCDC68	80323	broad.mit.edu	37	18	52609970	52609970	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:52609970T>A	ENST00000591504.1	-	3	327	c.53A>T	c.(52-54)gAt>gTt	p.D18V	CCDC68_ENST00000432185.1_Missense_Mutation_p.D18V|CCDC68_ENST00000337363.4_Missense_Mutation_p.D18V	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	18										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GGCAGAATTATCTTCCATCTT	0.388000													24	42					0	0	0.003330	0	0
WWC1	23286	broad.mit.edu	37	5	167850861	167850861	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:167850861C>T	ENST00000265293.4	+	11	2100	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	WWC1_ENST00000521089.1_Missense_Mutation_p.S533F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	533					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCATGACCTCCCTATCCCCA	0.632000													14	28					0	0	0.001855	0	0
MCHR2	84539	broad.mit.edu	37	6	100403968	100403968	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:100403968G>A	ENST00000281806.2	-	2	370	c.56C>T	c.(55-57)tCc>tTc	p.S19F	MCHR2_ENST00000369212.1_Missense_Mutation_p.S19F|MCHR2_ENST00000445970.1_Missense_Mutation_p.S19F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	19						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTATTCCAGGATTTGTTTAA	0.423000													33	61					0	0	0.002836	0	0
OBSL1	23363	broad.mit.edu	37	2	220430136	220430136	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:220430136G>A	ENST00000404537.1	-	6	2291	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	OBSL1_ENST00000603926.1_Silent_p.F745F|OBSL1_ENST00000289656.3_Silent_p.F332F|OBSL1_ENST00000373873.4_Silent_p.F745F|OBSL1_ENST00000373876.1_Silent_p.F745F|OBSL1_ENST00000265318.4_Silent_p.F745F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	745	Ig-like 5.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTTGCCGGGAAGTCCACCC	0.602000											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	25	43					0	0	0.005443	0	0
STAT2	6773	broad.mit.edu	37	12	56749512	56749512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56749512G>A	ENST00000314128.4	-	4	384	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q117*|STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q117*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	121					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CTCTGAGCCTGGATCAAAATT	0.448000													37	119					0	0	0.006230	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22102213G>A	ENST00000542433.1	-	1	883	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAGGTAGATGAAAATACAGG	0.547000													16	31					0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153175112	153175112	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153175112G>A	ENST00000340592.5	+	14	2420	c.2347G>A	c.(2347-2349)Gat>Aat	p.D783N	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.D793N|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	783					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGGTACGATAAAGGGGA	0.483000													7	17					0	0	0.003080	0	0
HEPH	9843	broad.mit.edu	37	X	65476031	65476031	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:65476031C>T	ENST00000519389.1	+	17	3096	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	HEPH_ENST00000419594.1_Missense_Mutation_p.R730W|HEPH_ENST00000336279.5_Missense_Mutation_p.R652W|HEPH_ENST00000374727.3_Missense_Mutation_p.R922W|HEPH_ENST00000441993.2_Missense_Mutation_p.R922W|HEPH_ENST00000343002.2_Missense_Mutation_p.R919W			Q9BQS7	HEPH_HUMAN	hephaestin	919	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGACATGGATCGGGAATTTGC	0.493000													26	20					0	0	0.005443	0	0
SHC3	53358	broad.mit.edu	37	9	91667023	91667023	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:91667023G>A	ENST00000375835.4	-	7	1197	c.891C>T	c.(889-891)atC>atT	p.I297I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	297	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	p.I297I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGGCTTGTCCGATGGAGCCGA	0.498000													25	25					0	0	0.003954	0	0
ITGA11	22801	broad.mit.edu	37	15	68607993	68607993	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:68607993C>T	ENST00000423218.2	-	22	2883	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S	ITGA11_ENST00000315757.7_Missense_Mutation_p.G930S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	930					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCTGACCTGCCTGCAGCGAGC	0.587000													5	32					0	0	0.001168	0	0
COLEC12	81035	broad.mit.edu	37	18	480727	480727	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:480727G>A	ENST00000400256.3	-	2	245	c.38C>T	c.(37-39)tCc>tTc	p.S13F		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	13					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTAACCGAAGGATTGCACCTC	0.552000													23	83					0	0	0.005443	0	0
CNTN6	27255	broad.mit.edu	37	3	1414149	1414149	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:1414149G>A	ENST00000446702.2	+	13	2286	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	CNTN6_ENST00000539053.1_Silent_p.R481R|CNTN6_ENST00000350110.2_Silent_p.R553R			Q9UQ52	CNTN6_HUMAN	contactin 6	553	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTTTGAAAGGATTGGAGGAG	0.353000													16	43					0	0	0.007413	0	0
ARNTL2	56938	broad.mit.edu	37	12	27568837	27568837	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:27568837C>T	ENST00000544915.1	+	14	1739	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	ARNTL2_ENST00000395901.2_Missense_Mutation_p.P504L|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P504L|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P541L|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P527L|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P493L|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P456L	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	541					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GATTCGAGTCCAACAGGTTTA	0.279000													12	49					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9076497	9076497	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9076497G>A	ENST00000397910.4	-	3	11152	c.10949C>T	c.(10948-10950)tCa>tTa	p.S3650L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3651	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						CTTTACAGCTGAAGCATCAGA	0.463000													24	43					0	0	0.003330	0	0
BUB1	699	broad.mit.edu	37	2	111419206	111419206	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:111419206G>A	ENST00000535254.1	-	9	1177	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	BUB1_ENST00000409311.1_Silent_p.A390A|BUB1_ENST00000302759.6_Silent_p.A390A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	390					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTACTGTCTGGGCTTTCAAAG	0.522000													34	42					0	0	0.003271	0	0
CASP5	838	broad.mit.edu	37	11	104874035	104874035	+	Missense_Mutation	SNP	T	T	A	rs143600313		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:104874035T>A	ENST00000393141.2	-	4	579	c.548A>T	c.(547-549)gAa>gTa	p.E183V	CASP5_ENST00000418434.1_Missense_Mutation_p.E28V|CASP5_ENST00000531367.1_Missense_Mutation_p.E28V|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.E112V|CASP5_ENST00000526056.1_Missense_Mutation_p.E183V|CASP5_ENST00000260315.3_Missense_Mutation_p.E170V	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	170					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTCAGGAATTCTTCACGAGG	0.388000													23	63					0	0	0.005443	0	0
SPARC	6678	broad.mit.edu	37	5	151051160	151051160	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:151051160G>A	ENST00000231061.4	-	5	617	c.304C>T	c.(304-306)Cca>Tca	p.P102S		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	102	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	ATGGGGGCTGGGCAGCTGGTG	0.592000													47	114					0	0	0.003610	0	0
C4orf50	389197	broad.mit.edu	37	4	5961233	5961233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:5961233G>A	ENST00000531445.1	-	7	2168	c.2122C>T	c.(2122-2124)Caa>Taa	p.Q708*	C4orf50_ENST00000324058.5_Nonsense_Mutation_p.Q234*			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	234										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TTATCGACTTGGAGGGCAGGA	0.567000													12	68					0	0	0.001368	0	0
LARGE	9215	broad.mit.edu	37	22	33780259	33780259	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:33780259C>T	ENST00000354992.2	-	9	1495	c.924G>A	c.(922-924)cgG>cgA	p.R308R	LARGE_ENST00000402320.1_Silent_p.R308R|LARGE_ENST00000452586.2_Silent_p.R107R|LARGE_ENST00000437602.2_Silent_p.R308R|LARGE_ENST00000337431.2_Silent_p.R308R|LARGE_ENST00000397394.2_Silent_p.R308R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	308					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATTTCATCTTCCGCAGCTTAT	0.488000													32	92					0	0	0.002836	0	0
CDC20B	166979	broad.mit.edu	37	5	54439467	54439467	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:54439467G>A	ENST00000334206.5	-	4	536	c.360C>T	c.(358-360)tcC>tcT	p.S120S	CDC20B_ENST00000322374.6_Silent_p.S120S|CDC20B_ENST00000331730.3_Silent_p.S99S|CDC20B_ENST00000296733.1_Silent_p.S120S|CDC20B_ENST00000381375.2_Silent_p.S120S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	120										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTCTTTGCGGGATCCTACAA	0.408000													15	29					0	0	0.004007	0	0
LGALS4	3960	broad.mit.edu	37	19	39293030	39293030	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39293030G>A	ENST00000307751.4	-	8	1062	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	195	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCAGCCTCCCGAAATATGGCA	0.502000													41	87					0	0	0.008740	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962863	88962863	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:88962863C>T	ENST00000333190.4	+	4	1176	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	189						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAATCGACACCAATTACAAT	0.413000										HNSCC(36;0.09)			21	55					0	0	0.002299	0	0
COL4A5	1287	broad.mit.edu	37	X	107840636	107840636	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:107840636C>T	ENST00000328300.6	+	24	1861	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	COL4A5_ENST00000361603.2_Silent_p.G539G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	539	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTGCTCCAGGCTTTCCTGGAT	0.448000									Alport syndrome with Diffuse Leiomyomatosis				62	17					0	0	0.003610	0	0
RREB1	6239	broad.mit.edu	37	6	7211090	7211090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7211090C>T	ENST00000379938.2	+	7	1016	c.479C>T	c.(478-480)cCa>cTa	p.P160L	RREB1_ENST00000334984.6_Missense_Mutation_p.P160L|RREB1_ENST00000379933.3_Missense_Mutation_p.P160L|RREB1_ENST00000349384.6_Missense_Mutation_p.P160L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	160					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACAGCCCCTCCATCTCCTCTG	0.483000													42	83					0	0	0.008740	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125828	12125828	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:12125828C>T	ENST00000379388.2	+	4	6132	c.5800C>T	c.(5800-5802)Cct>Tct	p.P1934S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1934					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTGGCTTTCCCTAGCCTGAA	0.423000													26	63					0	0	0.009535	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339534	11339534	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11339534C>T	ENST00000334266.1	-	1	9	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	4					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTGTCCAATTCGGTGGCCATC	0.368000													31	43					0	0	0.002096	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654452	61654452	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:61654452C>T	ENST00000397985.2	+	7	1321	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	SERPINB8_ENST00000353706.2_Silent_p.F355F|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Silent_p.F173F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	355					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTTCTTTTCTTCATCAGGC	0.512000													16	89					0	0	0.008871	0	0
OR52I1	390037	broad.mit.edu	37	11	4615303	4615303	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4615303C>T	ENST00000450052.2	+	2	107	c.107C>T	c.(106-108)aCc>aTc	p.T36I	OR52I1_ENST00000530443.2_Missense_Mutation_p.T12I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAATGGAAACCCCTGCCTCC	0.473000													51	146					0	0	0.003610	0	0
LINGO2	158038	broad.mit.edu	37	9	27950040	27950040	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:27950040A>T	ENST00000379992.2	-	6	1079	c.630T>A	c.(628-630)caT>caA	p.H210Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.H210Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	210						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGATATTGAGATGCTTCAGAT	0.468000													22	32					0	0	0.010504	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020837	33020837	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:33020837C>T	ENST00000565407.2	+	0	245				RP11-19N8.2_ENST00000567619.1_RNA																							TACGCAGACTCTGTGAAGGGC	0.512000													8	191					0	0	0.004007	0	0
CSMD2	114784	broad.mit.edu	37	1	34092084	34092084	+	Splice_Site	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:34092084A>T	ENST00000373381.4	-	33	5473		c.e33+1		CSMD2_ENST00000373377.1_Splice_Site|CSMD2_ENST00000373380.1_Splice_Site|CSMD2_ENST00000373388.2_Splice_Site	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCCTCCATACCTTGGTAGA	0.532000													7	17					0	0	0.004482	0	0
TECTA	7007	broad.mit.edu	37	11	120989023	120989023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:120989023C>T	ENST00000392793.1	+	7	1070	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	TECTA_ENST00000264037.2_Missense_Mutation_p.L267F			O75443	TECTA_HUMAN	tectorin alpha	267	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGACAATTCCTTCGGCGAGG	0.478000													14	46					0	0	0.003163	0	0
MYCN	4613	broad.mit.edu	37	2	16086111	16086111	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:16086111T>A	ENST00000281043.3	+	3	1584	c.1287T>A	c.(1285-1287)taT>taA	p.Y429*		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	429	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCACTGAGTATGTCCACTCCC	0.517000			A		neuroblastoma								77	136					0	0	0.003610	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214073	140214073	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140214073C>T	ENST00000525929.1	+	1	105	c.105C>T	c.(103-105)gtC>gtT	p.V35V	PCDHA7_ENST00000378125.3_Silent_p.V35V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTCGGTCCCCGAGGAGG	0.627000													34	69					0	0	0.002836	0	0
GPR20	2843	broad.mit.edu	37	8	142367016	142367016	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:142367016G>A	ENST00000377741.3	-	2	1098	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	336						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTGATGACGGCCTGAGCCCT	0.677000													18	29					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9068117	9068117	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9068117C>T	ENST00000397910.4	-	3	19532	c.19329G>A	c.(19327-19329)agG>agA	p.R6443R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6445	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						TGGCAATGGTCCTTTCTTCGG	0.522000													72	133					0	0	0.003610	0	0
TRIM27	5987	broad.mit.edu	37	6	28888011	28888011	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28888011G>A	ENST00000377199.3	-	3	881	c.525C>T	c.(523-525)acC>acT	p.T175T	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Silent_p.T175T	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	175					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTCCATCTGGGTTAGGCTCT	0.507000			T	RET	papillary thyroid								32	101					0	0	0.003755	0	0
ARNTL2	56938	broad.mit.edu	37	12	27568836	27568836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:27568836C>T	ENST00000544915.1	+	14	1738	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S	ARNTL2_ENST00000395901.2_Missense_Mutation_p.P504S|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P504S|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P541S|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P527S|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P493S|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P456S	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	541					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGATTCGAGTCCAACAGGTTT	0.274000													12	49					0	0	0.003163	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174541	150174541	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:150174541G>A	ENST00000307271.3	+	5	2245	c.1671G>A	c.(1669-1671)acG>acA	p.T557T		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	557						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGACTTTACGAAATACGCGA	0.493000													96	33					0	0	0.003610	0	0
KIAA0368	23392	broad.mit.edu	37	9	114151901	114151901	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:114151901G>A	ENST00000259335.4	-	32	3915	c.3916C>T	c.(3916-3918)Ccc>Tcc	p.P1306S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.P1128S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCAAGGTTGGGATCAAACTGG	0.463000													18	20					0	0	0.006122	0	0
NARFL	64428	broad.mit.edu	37	16	789655	789655	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:789655G>A	ENST00000251588.2	-	2	166	c.150C>T	c.(148-150)ttC>ttT	p.F50F	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.F50F	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	50					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGTTAATTTGGAAGTAGCTCC	0.537000													40	53					0	0	0.003610	0	0
PHEX	5251	broad.mit.edu	37	X	22117197	22117197	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:22117197C>T	ENST00000379374.4	+	9	1572	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	PHEX_ENST00000535894.1_Missense_Mutation_p.S239F|PHEX_ENST00000418858.3_Missense_Mutation_p.S39F|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.S336F	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	336					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATCAGCCCCTCCGAGAATGTG	0.453000													49	31					0	0	0.003610	0	0
DDX3X	1654	broad.mit.edu	37	X	41205845	41205845	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:41205845A>C	ENST00000399959.2	+	14	2440	c.1585A>C	c.(1585-1587)Att>Ctt	p.I529L	DDX3X_ENST00000457138.2_Missense_Mutation_p.I513L|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	529	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGTACATCGTATTGGTCGTAC	0.378000										HNSCC(61;0.18)			46	30					0	0	0.003610	0	0
SYNE3	161176	broad.mit.edu	37	14	95923555	95923555	+	Missense_Mutation	SNP	T	T	G	rs139621209		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:95923555T>G	ENST00000334258.5	-	4	762	c.748A>C	c.(748-750)Aac>Cac	p.N250H	SYNE3_ENST00000557275.1_Missense_Mutation_p.N250H|SYNE3_ENST00000553340.1_Missense_Mutation_p.N250H	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						AGCTTGCAGTTCCGCCCCAGG	0.622000													47	78					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117700224	117700224	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:117700224C>T	ENST00000368508.3	-	17	2793	c.2595G>A	c.(2593-2595)caG>caA	p.Q865Q	ROS1_ENST00000368507.3_Silent_p.Q860Q|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	865			Q -> H (in a lung large cell carcinoma sample; somatic mutation).		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q865H(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTACTTACCTCTGTCCCCGAA	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	39					0	0	0.004482	0	0
MUC6	4588	broad.mit.edu	37	11	1019291	1019291	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1019291C>T	ENST00000421673.2	-	30	4064	c.4014G>A	c.(4012-4014)ggG>ggA	p.G1338G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1338	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGCTTGTCCCTGATGTGG	0.617000													12	26					0	0	0.001855	0	0
TLN2	83660	broad.mit.edu	37	15	63011987	63011987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:63011987C>T	ENST00000561311.1	+	24	3129	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.Q967*			Q9Y4G6	TLN2_HUMAN	talin 2	967	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACATCCCTCAGCTGGTCCA	0.547000													5	18					0	0	0.001168	0	0
SP110	3431	broad.mit.edu	37	2	231067394	231067394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:231067394G>A	ENST00000258381.6	-	9	1026	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	SP110_ENST00000258382.5_Nonsense_Mutation_p.Q317*|SP110_ENST00000392048.3_Nonsense_Mutation_p.Q315*|SP110_ENST00000358662.4_Nonsense_Mutation_p.Q317*|SP110_ENST00000540870.1_Nonsense_Mutation_p.Q323*|SP110_ENST00000338556.3_Intron	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	317					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAGGAACCTGATCCACCCTT	0.458000													34	80					0	0	0.004878	0	0
ANKS1A	23294	broad.mit.edu	37	6	35047422	35047422	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:35047422C>A	ENST00000360359.3	+	15	2551	c.2413C>A	c.(2413-2415)Ctc>Atc	p.L805I	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	805	SAM 2.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGTGAAGAACCTCTGGGAGCT	0.612000													17	55					1.02788e-11	1.18782e-11	0.004990	1	0
SLC4A1	6521	broad.mit.edu	37	17	42335105	42335105	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:42335105G>A	ENST00000262418.6	-	12	1508	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	451	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCAGGGCGAAGAGAATGC	0.592000													7	29					0	0	0.001984	0	0
FOXR2	139628	broad.mit.edu	37	X	55650949	55650949	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:55650949C>T	ENST00000339140.3	+	1	1117	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	269					embryo development|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|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGCTCTTGCCTTTGGAAGCT	0.517000													27	20					0	0	0.005443	0	0
TRIB3	57761	broad.mit.edu	37	20	372142	372142	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:372142C>T	ENST00000217233.3	+	3	1056	c.503C>T	c.(502-504)aCc>aTc	p.T168I	TRIB3_ENST00000422053.2_Missense_Mutation_p.T195I	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	168	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGATGGCCACCGCCCTGGCG	0.622000													5	22					0	0	0.001168	0	0
NOP58	51602	broad.mit.edu	37	2	203157613	203157613	+	Silent	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:203157613T>A	ENST00000264279.5	+	9	1120	c.894T>A	c.(892-894)ctT>ctA	p.L298L		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	298	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAGCACGGCTTATTGCTCATG	0.368000													32	110					0	0	0.004289	0	0
CACNA1C	775	broad.mit.edu	37	12	2797694	2797694	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:2797694C>T	ENST00000399655.1	+	46	6131	c.5866C>T	c.(5866-5868)Cca>Tca	p.P1956S	CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1962S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1975S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P2027S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1976S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1981S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1991S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1973S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1975S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1964S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P2027S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1964S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1984S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1975S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1991S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1997S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P2004S|CACNA1C-AS1_ENST00000501371.1_RNA	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2039					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCCACCCCACCAGCCACACC	0.647000													36	57					0	0	0.004878	0	0
CNGA2	1260	broad.mit.edu	37	X	150909283	150909283	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:150909283T>C	ENST00000329903.4	+	4	425	c.392T>C	c.(391-393)tTt>tCt	p.F131S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	131					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAACTATTTGTCTTGGAC	0.532000													65	37					0	0	0.003610	0	0
AL132709.8	0	broad.mit.edu	37	14	101429389	101429389	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:101429389C>T	ENST00000423708.3	+	0	736																											GATGTCAAATCCTGAACTAGT	0.333000													10	24					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179585824	179585824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179585824G>A	ENST00000589042.1	-	79	23146	c.22922C>T	c.(22921-22923)tCa>tTa	p.S7641L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6397L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7324L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7324	Ig-like 58.						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)			TCGGAACCATGAAACTTTGAT	0.373000													35	90					0	0	0.002836	0	0
FLII	2314	broad.mit.edu	37	17	18156662	18156662	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:18156662G>A	ENST00000327031.4	-	9	1191	c.966C>T	c.(964-966)ttC>ttT	p.F322F	FLII_ENST00000579294.1_Silent_p.F311F|FLII_ENST00000545457.2_Silent_p.F268F|FLII_ENST00000379450.4_Silent_p.F237F|FLII_ENST00000578558.1_Silent_p.F322F	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	322	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGGCAGCCATGAACTCTTCCA	0.577000													9	32					0	0	0.006214	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187831	70187831	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:70187831C>T	ENST00000320256.4	-	1	1566	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	330					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAGGGGTCCTCCTCTATGA	0.552000													37	92					0	0	0.002522	0	0
DNAH9	1770	broad.mit.edu	37	17	11593480	11593480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:11593480G>A	ENST00000262442.3	+	20	4409	c.4341G>A	c.(4339-4341)atG>atA	p.M1447I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M1447I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1447	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTGGCATGGAATTCCAGT	0.512000													8	40					0	0	0.006214	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226281	25226281	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:25226281G>A	ENST00000320152.6	-	3	199	c.171C>T	c.(169-171)gcC>gcT	p.A57A	PRTFDC1_ENST00000376378.1_Silent_p.A57A|PRTFDC1_ENST00000376376.3_Silent_p.A57A	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	57					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TAATATCCTTGGCCAGCCGCT	0.368000													10	42					0	0	0.000978	0	0
UNC5D	137970	broad.mit.edu	37	8	35631906	35631906	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:35631906C>T	ENST00000287272.2	+	15	2381	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S	UNC5D_ENST00000420357.1_Silent_p.S789S|UNC5D_ENST00000416672.1_Silent_p.S861S|UNC5D_ENST00000404895.2_Silent_p.S856S|UNC5D_ENST00000453357.2_Silent_p.S851S|UNC5D_ENST00000449677.1_Silent_p.S432S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	856					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)		TTCCCTACTCCATCAGACAGC	0.463000													28	57					0	0	0.006320	0	0
OR4K17	390436	broad.mit.edu	37	14	20586276	20586276	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:20586276C>T	ENST00000315543.4	+	1	711	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTGGCATAATCTCCCTGAGCT	0.413000													27	97					0	0	0.004656	0	0
EFNB3	1949	broad.mit.edu	37	17	7608921	7608921	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7608921G>A	ENST00000226091.2	+	1	402	c.5G>A	c.(4-6)gGg>gAg	p.G2E		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	2					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGGTCATGGGGCCCCCCCAT	0.731000													3	9					0	0	0.004672	0	0
APOL1	8542	broad.mit.edu	37	22	36662071	36662071	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:36662071G>A	ENST00000319136.4	+	7	1504	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	APOL1_ENST00000397278.3_Missense_Mutation_p.E397K|APOL1_ENST00000426053.1_Missense_Mutation_p.E379K|APOL1_ENST00000422706.1_Missense_Mutation_p.E397K|APOL1_ENST00000397279.4_Missense_Mutation_p.E397K|APOL1_ENST00000347595.7_Missense_Mutation_p.E276K	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	397					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.E413K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GGCGGACCAAGAACTGTGACC	0.483000													20	44					0	0	0.010504	0	0
DDX51	317781	broad.mit.edu	37	12	132626863	132626863	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:132626863C>T	ENST00000397333.3	-	4	813	c.775G>A	c.(775-777)Ggc>Agc	p.G259S		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	259	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TTCCCACTGCCTGTTGGGGCA	0.612000													14	48					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179500199	179500199	+	Missense_Mutation	SNP	C	C	T	rs55723264		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179500199C>T	ENST00000589042.1	-	227	42076	c.41852G>A	c.(41851-41853)gGa>gAa	p.G13951E	TTN_ENST00000359218.5_Missense_Mutation_p.G5011E|TTN_ENST00000342992.6_Missense_Mutation_p.G11383E|TTN_ENST00000460472.2_Missense_Mutation_p.G4886E|TTN_ENST00000342175.6_Missense_Mutation_p.G5078E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G12310E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12310	Ig-like 95.						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)			GTATCTTTTTCCTTCAATTTC	0.338000													4	14					0	0	0.009096	0	0
LIMA1	51474	broad.mit.edu	37	12	50589631	50589631	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:50589631G>A	ENST00000547825.1	-	2	1375	c.106C>T	c.(106-108)Cct>Tct	p.P36S	LIMA1_ENST00000552823.1_Missense_Mutation_p.P178S|LIMA1_ENST00000552909.1_Missense_Mutation_p.P178S|LIMA1_ENST00000552783.1_Missense_Mutation_p.P178S|LIMA1_ENST00000552491.1_Missense_Mutation_p.P36S|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.P338S|LIMA1_ENST00000341247.4_Missense_Mutation_p.P338S	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	338					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTTCGGCAGGGGTGGAACGG	0.378000													16	51					0	0	0.010504	0	0
STAT3	6774	broad.mit.edu	37	17	40476848	40476848	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40476848G>A	ENST00000264657.5	-	17	1793	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	STAT3_ENST00000404395.3_Missense_Mutation_p.T494I|STAT3_ENST00000389272.3_Missense_Mutation_p.T396I|STAT3_ENST00000588969.1_Missense_Mutation_p.T494I|STAT3_ENST00000585517.1_Missense_Mutation_p.T494I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	494					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGGGGGCTTGGTAAAAAAGTT	0.488000									Hyperimmunoglobulin E Recurrent Infection Syndrome				29	35					0	0	0.009535	0	0
CCDC129	223075	broad.mit.edu	37	7	31617952	31617952	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:31617952G>A	ENST00000409210.1	+	6	982	c.798G>A	c.(796-798)aaG>aaA	p.K266K	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Silent_p.K384K|CCDC129_ENST00000407970.3_Silent_p.K358K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	358										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCAGTCAAGGGCAGAACTC	0.498000													11	44					0	0	0.000978	0	0
GATA5	140628	broad.mit.edu	37	20	61048533	61048533	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:61048533G>A	ENST00000252997.2	-	3	686	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	209					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCATTGCACAGGTAGTGGCCG	0.662000													5	21					0	0	0.000602	0	0
RSPH4A	345895	broad.mit.edu	37	6	116944108	116944108	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:116944108G>A	ENST00000229554.5	+	2	1001	c.864G>A	c.(862-864)aaG>aaA	p.K288K	RSPH4A_ENST00000368580.4_Silent_p.K288K|RSPH4A_ENST00000368581.4_Silent_p.K288K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	288					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAAGCAAAAGGCTCTTTTTC	0.328000									Kartagener syndrome				54	134					0	0	0.003610	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785199	37785199	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:37785199T>G	ENST00000314103.4	+	12	1230	c.1079T>G	c.(1078-1080)tTc>tGc	p.F360C		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	360					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GATGGTGCCTTCCTGGCCATT	0.443000													25	68					0	0	0.006320	0	0
WLS	79971	broad.mit.edu	37	1	68564346	68564346	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:68564346A>T	ENST00000540432.1	-	12	1890	c.1607T>A	c.(1606-1608)tTc>tAc	p.F536Y	WLS_ENST00000354777.2_Missense_Mutation_p.F534Y|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	0					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						gtcattgatgaaggaatattt	0.388000													20	54					0	0	0.002780	0	0
RASSF6	166824	broad.mit.edu	37	4	74442203	74442203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:74442203G>A	ENST00000307439.5	-	10	1156	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	RASSF6_ENST00000395777.2_Missense_Mutation_p.H254Y|RASSF6_ENST00000342081.3_Missense_Mutation_p.H320Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.H276Y	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	320	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGAGAAAAGTGAAAGTTAATG	0.348000													6	9					0	0	0.001168	0	0
GRM7	2917	broad.mit.edu	37	3	7620981	7620981	+	Silent	SNP	G	G	A	rs117160055		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:7620981G>A	ENST00000486284.1	+	8	2662	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	GRM7_ENST00000402647.2_Silent_p.T796T|GRM7_ENST00000389336.4_Silent_p.T796T|GRM7_ENST00000357716.4_Silent_p.T796T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.T796T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	796					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTATGTACACGACATGTATAG	0.403000													9	33					0	0	0.004482	0	0
TCF20	6942	broad.mit.edu	37	22	42606728	42606728	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:42606728G>A	ENST00000359486.3	-	1	4720	c.4584C>T	c.(4582-4584)ttC>ttT	p.F1528F	TCF20_ENST00000335626.4_Silent_p.F1528F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTTGGAGGGAAACCCTCTT	0.517000													27	49					0	0	0.006320	0	0
AAK1	22848	broad.mit.edu	37	2	69759266	69759266	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:69759266C>T	ENST00000409085.4	-	6	939	c.563G>A	c.(562-564)gGc>gAc	p.G188D	AAK1_ENST00000409068.1_Missense_Mutation_p.G188D|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000406297.3_Missense_Mutation_p.G188D	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	188	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GACATAGTGGCCTCGGTCATG	0.423000													21	49					0	0	0.008871	0	0
EMC3	55831	broad.mit.edu	37	3	10012301	10012301	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:10012301C>T	ENST00000245046.2	-	6	997	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3									p.R180P(1)									GTAAATGCTCCGAAGCCCAAA	0.403000													27	89					0	0	0.009535	0	0
CADPS	8618	broad.mit.edu	37	3	62739277	62739277	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:62739277C>T	ENST00000383710.4	-	3	1076	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	CADPS_ENST00000357948.3_Missense_Mutation_p.A243T|CADPS_ENST00000490353.2_Missense_Mutation_p.A243T|CADPS_ENST00000283269.9_Missense_Mutation_p.A243T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	243					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGGTAGATGGCATCAAATTTG	0.567000													28	54					0	0	0.005443	0	0
GPX5	2880	broad.mit.edu	37	6	28501754	28501754	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28501754C>T	ENST00000412168.2	+	5	565	c.476C>T	c.(475-477)cCc>cTc	p.P159L	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	159					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTCCTCATCCCTCTGAGATT	0.458000													63	137					0	0	0.003610	0	0
CRISP3	10321	broad.mit.edu	37	6	49703226	49703226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:49703226G>A	ENST00000433368.2	-	4	406	c.337C>T	c.(337-339)Cga>Tga	p.R113*	CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.R90*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.R121*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.R103*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	90					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTCATTCGATCCTTTGGG	0.333000													33	120					0	0	0.002836	0	0
NALCN	259232	broad.mit.edu	37	13	101712174	101712174	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:101712174G>A	ENST00000251127.6	-	42	4982	c.4901C>T	c.(4900-4902)cCt>cTt	p.P1634L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1634						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCATACCTCAGGTTGCATGCT	0.517000													21	63					0	0	0.002780	0	0
ASIC2	40	broad.mit.edu	37	17	31415919	31415919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:31415919G>A	ENST00000225823.2	-	3	1821	c.949C>T	c.(949-951)Cca>Tca	p.P317S	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.P266S	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	266					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGAACCCTGGAGCCACCCCA	0.562000													3	24					0	0	0.004672	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050875	8050875	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:8050875C>T	ENST00000607111.1	+	0	278																				kidney(1)|lung(4)|prostate(1)	6						agacctggttccagaaccaga	0.363000													9	9					0	0	0.001368	0	0
SCRN1	9805	broad.mit.edu	37	7	29963649	29963649	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:29963649G>A	ENST00000426154.1	-	8	1345	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	SCRN1_ENST00000416113.2_Missense_Mutation_p.S216F|SCRN1_ENST00000409497.1_Missense_Mutation_p.S390F|SCRN1_ENST00000242059.5_Missense_Mutation_p.S390F	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	390					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTGGCTCGGAGCTGGTCAG	0.537000													26	52					0	0	0.004656	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948253	119948253	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:119948253G>A	ENST00000307142.4	+	3	925	c.729G>A	c.(727-729)tcG>tcA	p.S243S	SYNPO2_ENST00000429713.2_Silent_p.S243S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.S243S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	243						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.S243S(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACATAAATTCGATCCCTACTA	0.493000													4	22					0	0	0.009096	0	0
ZNF597	146434	broad.mit.edu	37	16	3487539	3487539	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:3487539C>T	ENST00000301744.4	-	4	396		c.e4-1		LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CCTTCCTCTCCTGTTGATAAA	0.418000													17	18					0	0	0.004007	0	0
RGPD3	653489	broad.mit.edu	37	2	107029624	107029624	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:107029624C>T	ENST00000409886.3	-	22	5269	c.5182G>A	c.(5182-5184)Gaa>Aaa	p.E1728K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1728K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1728	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCTCTCTTTCACTACCTGGC	0.443000													70	164					0	0	0.003610	0	0
HAL	3034	broad.mit.edu	37	12	96370431	96370431	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:96370431G>A	ENST00000261208.3	-	19	2076	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	HAL_ENST00000538703.1_Silent_p.L570L|HAL_ENST00000541929.1_Silent_p.L362L	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	570					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTTGTTTTCAGGGGACGTAGA	0.478000													101	40					0	0	0.003610	0	0
REV1	51455	broad.mit.edu	37	2	100020940	100020940	+	Silent	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:100020940T>G	ENST00000258428.3	-	18	3240	c.3012A>C	c.(3010-3012)ggA>ggC	p.G1004G	REV1_ENST00000393445.3_Silent_p.G1003G|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1004					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAAATTTATTCCTGCGTCAC	0.423000								Direct reversal of damage					31	92					0	0	0.009535	0	0
CREB3L4	148327	broad.mit.edu	37	1	153945887	153945887	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153945887A>G	ENST00000368607.3	+	8	1110	c.844A>G	c.(844-846)Acg>Gcg	p.T282A	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.T282A|CREB3L4_ENST00000405694.3_Missense_Mutation_p.T135A|CREB3L4_ENST00000368600.3_Missense_Mutation_p.T262A|CREB3L4_ENST00000368603.1_Missense_Mutation_p.T282A	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	282					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	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)			CCAGCTGCAGACGCTAATTGC	0.517000													19	40					0	0	0.003330	0	0
TRPS1	7227	broad.mit.edu	37	8	116599255	116599255	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:116599255G>A	ENST00000395715.3	-	5	3250	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	TRPS1_ENST00000220888.5_Silent_p.S878S|TRPS1_ENST00000519076.1_Silent_p.S632S|TRPS1_ENST00000519674.1_Silent_p.S878S|TRPS1_ENST00000520276.1_Silent_p.S882S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	878					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTCATCCTTGGACTTGTTTT	0.502000									Langer-Giedion syndrome				22	51					0	0	0.002780	0	0
TENM3	55714	broad.mit.edu	37	4	183600924	183600924	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:183600924C>T	ENST00000511685.1	+	8	1555	c.1432C>T	c.(1432-1434)Cat>Tat	p.H478Y	TENM3_ENST00000406950.2_Missense_Mutation_p.H478Y					teneurin transmembrane protein 3																		CGTCAGCCTTCATGAGGCCGG	0.532000													19	34					0	0	0.008871	0	0
PKP2	5318	broad.mit.edu	37	12	32945370	32945370	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:32945370G>A	ENST00000340811.4	-	13	2610	c.2502C>T	c.(2500-2502)tcC>tcT	p.S834S	PKP2_ENST00000070846.6_Silent_p.S878S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	878					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTCTTTAAGGGAGTGGTAGG	0.423000													14	40					0	0	0.004007	0	0
YEATS2	55689	broad.mit.edu	37	3	183480001	183480001	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:183480001C>T	ENST00000305135.5	+	15	2076	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	627					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGCTGTGTCCCCTCAAAAAC	0.537000													28	48					0	0	0.004656	0	0
ATG2A	23130	broad.mit.edu	37	11	64677192	64677192	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64677192C>A	ENST00000421419.2	-	14	2182	c.2068G>T	c.(2068-2070)Gtc>Ttc	p.V690F	ATG2A_ENST00000377264.3_Missense_Mutation_p.V690F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	690							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGTGGGGACTGGGGGACCA	0.667000													20	39					1.37522e-17	1.59396e-17	0.007413	1	0
KIAA1804	84451	broad.mit.edu	37	1	233514909	233514909	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:233514909G>A	ENST00000366624.3	+	9	2418	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	MLK4_ENST00000366622.1_Silent_p.T165T	NM_032435.2	NP_115811.2																					GAAAGAAAACGGAGTCAGCTC	0.547000													28	34					0	0	0.005443	0	0
RASGRF2	5924	broad.mit.edu	37	5	80363981	80363981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:80363981G>A	ENST00000265080.4	+	3	593	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	176					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.E176K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACAGAAATCGAAAGGCTTAA	0.383000													16	52					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179466205	179466205	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179466205C>T	ENST00000589042.1	-	287	55743	c.55519G>A	c.(55519-55521)Gga>Aga	p.G18507R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9567R|TTN_ENST00000342992.6_Missense_Mutation_p.G15939R|TTN_ENST00000460472.2_Missense_Mutation_p.G9442R|TTN_ENST00000342175.6_Missense_Mutation_p.G9634R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16866R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16866	Ig-like 106.						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)			CTGTCTCCTCCATCGTCGTCT	0.453000													52	117					0	0	0.003610	0	0
ECHS1	1892	broad.mit.edu	37	10	135182473	135182473	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:135182473C>T	ENST00000368547.3	-	4	823	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	156					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		ACTGGGCCTTCTCACCGGCAT	0.488000													26	33					0	0	0.002096	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843670	160843670	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:160843670G>A	ENST00000283243.7	-	12	2240	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	PLA2R1_ENST00000392771.1_Silent_p.F678F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	678	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTATCACCTTGAAGCAACTGG	0.438000													28	57					0	0	0.008361	0	0
SRGAP1	57522	broad.mit.edu	37	12	64488754	64488754	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:64488754C>T	ENST00000355086.3	+	13	2106	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R465W|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R505W	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	528	Rho-GAP.				axon guidance	cytosol		p.R528W(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAGCTGTATTCGGTTCATCAA	0.383000													42	80					0	0	0.002852	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566737	45566737	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:45566737A>G	ENST00000588982.1	-	3	1243	c.742T>C	c.(742-744)Ttg>Ctg	p.L248L	ZBTB7C_ENST00000586438.1_Silent_p.L248L|ZBTB7C_ENST00000535628.2_Silent_p.L248L|ZBTB7C_ENST00000590800.1_Silent_p.L248L|ZBTB7C_ENST00000332053.2_Silent_p.L248L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	248						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AATGGAGACAAGGAGGGTCTC	0.612000													9	24					0	0	0.004482	0	0
CFI	3426	broad.mit.edu	37	4	110667517	110667517	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:110667517G>A	ENST00000394634.2	-	11	1497	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	CFI_ENST00000394635.3_Silent_p.I438I|CFI_ENST00000512148.1_Silent_p.I423I	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	430	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CAATCAAAGCGATGTCATTTT	0.408000													9	37					0	0	0.006214	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73064048	73064048	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:73064048C>T	ENST00000263674.3	+	3	3794	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L	ARHGEF17_ENST00000536170.1_3'UTR	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1148	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCTGCTCGTCCAGTCGG	0.657000													23	28					0	0	0.002780	0	0
EPB41	2035	broad.mit.edu	37	1	29342210	29342210	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:29342210C>T	ENST00000343067.4	+	6	963	c.836C>T	c.(835-837)cCt>cTt	p.P279L	EPB41_ENST00000398863.2_Missense_Mutation_p.P279L|EPB41_ENST00000373797.1_Missense_Mutation_p.P279L|EPB41_ENST00000373798.1_Missense_Mutation_p.P279L|EPB41_ENST00000373800.3_Missense_Mutation_p.P70L|EPB41_ENST00000356093.2_Missense_Mutation_p.P279L|EPB41_ENST00000349460.4_Missense_Mutation_p.P70L|EPB41_ENST00000347529.3_Missense_Mutation_p.P244L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	279	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATAGGTGTCCCTTGGAATTTT	0.269000													7	31					0	0	0.001984	0	0
RIMS3	9783	broad.mit.edu	37	1	41107542	41107542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41107542C>T	ENST00000372684.3	-	3	525	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	RIMS3_ENST00000372683.1_Missense_Mutation_p.R19Q	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	19					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)			GCTGGAGCTCCGCACCACATT	0.667000													18	44					0	0	0.007413	0	0
FSCB	84075	broad.mit.edu	37	14	44975396	44975396	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:44975396G>A	ENST00000340446.4	-	1	1086	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	265						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTTAGCTGGGAATTTTTCTG	0.453000													17	52					0	0	0.010504	0	0
EIF2A	83939	broad.mit.edu	37	3	150264610	150264610	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:150264610C>T	ENST00000460851.1	+	1	130	c.21C>T	c.(19-21)ctC>ctT	p.L7L	EIF2A_ENST00000406576.3_Silent_p.L7L|EIF2A_ENST00000273435.5_Silent_p.L7L|EIF2A_ENST00000487799.1_Silent_p.L7L|SERP1_ENST00000479209.1_5'UTR			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	7				L -> F (in Ref. 4; AAQ13612).	regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCACGCCGCTCTTGACAGGTG	0.562000													34	70					0	0	0.005524	0	0
STK33	65975	broad.mit.edu	37	11	8496233	8496233	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:8496233C>T	ENST00000447869.1	-	1	1138	c.220G>A	c.(220-222)Gat>Aat	p.D74N	STK33_ENST00000534493.1_Missense_Mutation_p.D33N|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.D74N|STK33_ENST00000396673.1_Missense_Mutation_p.D74N|STK33_ENST00000315204.1_Missense_Mutation_p.D74N			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	74						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTTACCAAATCTTTCCTGGAG	0.373000													3	16					0	0	0.004672	0	0
VHLL	391104	broad.mit.edu	37	1	156268622	156268622	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:156268622G>A	ENST00000339922.3	-	1	806	c.359C>T	c.(358-360)cCa>cTa	p.P120L		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	120	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					ATTGGAAGATGGCACAAACAA	0.478000													32	74					0	0	0.002836	0	0
SCN5A	6331	broad.mit.edu	37	3	38671874	38671874	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38671874G>A	ENST00000413689.1	-	3	513	c.320C>T	c.(319-321)gCc>gTc	p.A107V	SCN5A_ENST00000450102.2_Missense_Mutation_p.A107V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A107V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A107V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A107V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A107V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A107V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A107V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A107V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A107V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	107					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCGTTGGTGGCACTGAACCG	0.512000													30	89					0	0	0.002836	0	0
TIAM1	7074	broad.mit.edu	37	21	32519304	32519304	+	Silent	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:32519304C>A	ENST00000286827.3	-	21	3855	c.3384G>T	c.(3382-3384)ctG>ctT	p.L1128L	TIAM1_ENST00000541036.1_Silent_p.L1068L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1128	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGATCCCCCCAGAGAGAACA	0.502000													12	35					0.00010058	0.000115626	0.001368	1	0
PIM2	11040	broad.mit.edu	37	X	48776078	48776078	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:48776078G>A	ENST00000376509.4	-	1	223	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	12					anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GTCCCGGGGGGCGCGGGAGGC	0.706000													19	11					0	0	0.004656	0	0
CASC5	57082	broad.mit.edu	37	15	40921491	40921491	+	Silent	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:40921491A>T	ENST00000346991.5	+	14	6072	c.5682A>T	c.(5680-5682)atA>atT	p.I1894I	CASC5_ENST00000399668.2_Silent_p.I1868I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1894	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATGGGAGAATAACAATAAGGG	0.378000													10	14					0	0	0.008291	0	0
STON2	85439	broad.mit.edu	37	14	81744041	81744041	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:81744041G>A	ENST00000555447.1	-	6	2026	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	STON2_ENST00000267540.2_Silent_p.F538F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	538	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAACTCAGGAAGTCATCGT	0.488000													31	52					0	0	0.007291	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019892	245019892	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:245019892C>T	ENST00000444376.2	-	10	1956	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	HNRNPU_ENST00000283179.9_Missense_Mutation_p.M593I	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	593					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CAAACAGGCACATTTTTCTCC	0.373000													30	33					0	0	0.008361	0	0
ZNF763	284390	broad.mit.edu	37	19	12089398	12089398	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:12089398G>A	ENST00000343949.5	+	4	823	c.668G>A	c.(667-669)aGa>aAa	p.R223K	ZNF763_ENST00000538752.1_Missense_Mutation_p.R240K|ZNF763_ENST00000590798.1_Missense_Mutation_p.R240K|ZNF763_ENST00000545530.1_Missense_Mutation_p.R98K|ZNF763_ENST00000358987.3_Missense_Mutation_p.R220K	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATCCATGAAAGAACTCACACT	0.383000													28	50					0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13771003	13771003	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13771003C>T	ENST00000265104.4	-	56	9564	c.9460G>A	c.(9460-9462)Gat>Aat	p.D3154N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3154	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCACCCCATCCTGGAAGGAG	0.448000									Kartagener syndrome				27	53					0	0	0.004656	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:56035908C>T	ENST00000244728.5	-	4	1056	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000													20	52					0	0	0.003954	0	0
USH1C	10083	broad.mit.edu	37	11	17547960	17547960	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:17547960C>T	ENST00000005226.7	-	8	607	c.608G>A	c.(607-609)gGa>gAa	p.G203E	USH1C_ENST00000527020.1_Missense_Mutation_p.G203E|USH1C_ENST00000318024.4_Missense_Mutation_p.G203E|USH1C_ENST00000527720.1_Missense_Mutation_p.G172E	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	203					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTCCCGATTTCCAGGGGAGCC	0.597000													15	21					0	0	0.006122	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423875	47423875	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:47423875T>C	ENST00000404338.3	+	1	1943	c.1943T>C	c.(1942-1944)gTg>gCg	p.V648A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	648					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGGCTTCCTGTGAACTCTTTC	0.438000													28	61					0	0	0.009535	0	0
FEM1A	55527	broad.mit.edu	37	19	4792693	4792693	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:4792693C>T	ENST00000269856.3	+	1	966	c.827C>T	c.(826-828)tCc>tTc	p.S276F	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	276					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCAGCTCCTCCCCAGAGGAA	0.647000													10	48					0	0	0.000978	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257666	9257666	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:9257666C>T	ENST00000383440.2	+	8	4589	c.4332C>T	c.(4330-4332)tcC>tcT	p.S1444S	ANKRD12_ENST00000400020.3_Silent_p.S1444S|ANKRD12_ENST00000262126.3_Silent_p.S1467S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1467						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTTTTTATCCCTGCGCCAGA	0.428000													12	45					0	0	0.001368	0	0
AGAP7	653268	broad.mit.edu	37	10	51465424	51465424	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:51465424C>T	ENST00000374095.5	-	7	1157	c.1032G>A	c.(1030-1032)atG>atA	p.M344I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	344	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCCGGTGTCCATGTCCTTGG	0.552000													83	91					0	0	0.003610	0	0
GH2	2689	broad.mit.edu	37	17	61958410	61958410	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:61958410C>T	ENST00000332800.7	-	3	403	c.270G>A	c.(268-270)agG>agA	p.R90R	GH2_ENST00000449787.2_Silent_p.R75R|GH2_ENST00000423893.2_Silent_p.R90R|GH2_ENST00000456543.2_Silent_p.R90R	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	90			R -> W (in dbSNP:rs5389).			extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCGTTTTCACCCTGTTGGAAG	0.557000													35	156					0	0	0.004878	0	0
COL8A1	1295	broad.mit.edu	37	3	99513110	99513110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:99513110C>T	ENST00000261037.3	+	5	745	c.365C>T	c.(364-366)cCc>cTc	p.P122L	COL8A1_ENST00000273342.4_Missense_Mutation_p.P122L	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	122	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GAACAAGGTCCCCGTGGAGAG	0.527000													14	24					0	0	0.006122	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	G	A	rs141164035		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:24256521G>A	ENST00000538205.1	+	10	1207	c.660G>A	c.(658-660)ggG>ggA	p.G220G	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.G220G|ADAMDEC1_ENST00000256412.4_Silent_p.G299G|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000													14	44					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	114031403	114031403	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:114031403G>A	ENST00000297405.5	-	6	1167	c.923C>T	c.(922-924)tCt>tTt	p.S308F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S308F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S308F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S268F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	308	CUB 2.					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						ATTCATTCCAGATAACCTGAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	49					0	0	0.006320	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465339	77465339	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:77465339C>T	ENST00000282849.5	-	3	766	c.348G>A	c.(346-348)gcG>gcA	p.A116A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	116					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTCAAAATCGCCGAGGGCT	0.483000													68	54					0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76522762	76522762	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:76522762C>T	ENST00000389840.5	-	24	3806	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D1225N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGTTGGGGTCGCTGAAGGAG	0.537000													8	18					0	0	0.006214	0	0
CNGB1	1258	broad.mit.edu	37	16	57935322	57935322	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:57935322C>T	ENST00000564448.1	-	29	2952	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	CNGB1_ENST00000251102.8_Missense_Mutation_p.M970I			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	970					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGTCAAAGATCATCTGCCGGT	0.572000													34	34					0	0	0.003271	0	0
PCSK1	5122	broad.mit.edu	37	5	95734685	95734685	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:95734685C>T	ENST00000311106.3	-	11	1723	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.G449R	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	496					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTCTTGTCCTTCACAAGCT	0.373000													7	23					0	0	0.001984	0	0
CD200R1	131450	broad.mit.edu	37	3	112666766	112666766	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:112666766C>T	ENST00000308611.3	-	2	337	c.73G>A	c.(73-75)Gag>Aag	p.E25K	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000471858.1_Intron|CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.E25K	NM_138806.3	NP_620161.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	22					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						GCAGCACCCTCCGCTTCTGAA	0.363000													14	35					0	0	0.003163	0	0
LGALS12	85329	broad.mit.edu	37	11	63283073	63283073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63283073C>T	ENST00000415491.2	+	7	1183	c.569C>T	c.(568-570)cCt>cTt	p.P190L	LGALS12_ENST00000255684.5_Missense_Mutation_p.P242L|LGALS12_ENST00000340246.5_Missense_Mutation_p.P252L|LGALS12_ENST00000394618.3_Missense_Mutation_p.P251L|LGALS12_ENST00000425950.2_Missense_Mutation_p.P181L	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	251					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCCCATGCTCCTGTGACACTC	0.597000													12	45					0	0	0.001368	0	0
BDKRB2	624	broad.mit.edu	37	14	96703494	96703494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:96703494C>T	ENST00000306005.3	+	2	246	c.50C>T	c.(49-51)tCc>tTc	p.S17F	RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.S17F|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S17F|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000539359.1_5'UTR	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	17					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGTGAGGACTCCGTGCCCACC	0.532000													39	62					0	0	0.009718	0	0
WNT5A	7474	broad.mit.edu	37	3	55508524	55508524	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:55508524C>T	ENST00000474267.1	-	5	1046	c.525G>A	c.(523-525)cgG>cgA	p.R175R	WNT5A_ENST00000497027.1_Silent_p.R160R|WNT5A_ENST00000264634.4_Silent_p.R175R			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	175					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		AGAGCCAGTCCCGCGGCAGGT	0.726000													4	5					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179542396	179542396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179542396C>A	ENST00000589042.1	-	146	34467	c.34243G>T	c.(34243-34245)Gaa>Taa	p.E11415*	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10171*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11098*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11098	Glu-rich.|Pro-rich.						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)			AGGACTTCTTCTTCAGGTACA	0.443000													25	49					5.45024e-15	6.3077e-15	0.003330	1	0
SORCS2	57537	broad.mit.edu	37	4	7716918	7716918	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:7716918G>A	ENST00000507866.2	+	17	2241	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	SORCS2_ENST00000329016.9_Missense_Mutation_p.G539E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	711						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGCGACTACGGATTTGAGCGC	0.597000													38	58					0	0	0.002522	0	0
FOXN1	8456	broad.mit.edu	37	17	26856216	26856216	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:26856216C>T	ENST00000226247.2	+	4	833	c.804C>T	c.(802-804)ctC>ctT	p.L268L	FOXN1_ENST00000579795.1_Silent_p.L268L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	268					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACCAGCCTCTCTTCCCAAAAC	0.597000													48	58					0	0	0.003610	0	0
SON	6651	broad.mit.edu	37	21	34927501	34927501	+	Silent	SNP	T	T	C	rs139304331		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:34927501T>C	ENST00000356577.4	+	3	6439	c.5964T>C	c.(5962-5964)ccT>ccC	p.P1988P	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.P1988P|SON_ENST00000290239.6_Silent_p.P1988P|SON_ENST00000300278.4_Silent_p.P1988P	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1988	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						gccgcacccctagccgtcgga	0.697000													20	34					0	0	0.002299	0	0
NPY1R	4886	broad.mit.edu	37	4	164247183	164247183	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:164247183A>T	ENST00000296533.2	-	2	1055	c.524T>A	c.(523-525)aTc>aAc	p.I175N	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	175					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)				TACTTGGTAGATCAGGAAAGG	0.423000													17	21					0	0	0.004007	0	0
ATP1A3	478	broad.mit.edu	37	19	42479941	42479941	+	Silent	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42479941A>T	ENST00000545399.1	-	16	2295	c.2142T>A	c.(2140-2142)atT>atA	p.I714I	ATP1A3_ENST00000543770.1_Silent_p.I712I|ATP1A3_ENST00000602133.1_Silent_p.I671I|ATP1A3_ENST00000302102.5_Silent_p.I701I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	701					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCACAGCCACAATTGCACCCT	0.637000													32	76					0	0	0.002445	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567280	46567280	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:46567280G>A	ENST00000458649.2	-	5	843	c.425C>T	c.(424-426)tCc>tTc	p.S142F	AMBRA1_ENST00000314845.3_Missense_Mutation_p.S142F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S142F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S142F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S142F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S142F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S142F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	142					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAAGCCAGGGAGGCAATGGC	0.527000													23	44					0	0	0.002780	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814936	54814936	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:54814936C>T	ENST00000585477.1	+	1	644	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		TAAACCACATCTTCAGGCCAC	0.517000													4	25					0	0	0.000602	0	0
PLCG2	5336	broad.mit.edu	37	16	81960742	81960742	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:81960742G>A	ENST00000359376.3	+	23	2687	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	825	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAACTACGTCGAGGACATCTC	0.522000													59	66					0	0	0.003610	0	0
NNAT	4826	broad.mit.edu	37	20	36151112	36151112	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:36151112G>A	ENST00000062104.2	+	3	314	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000373537.2_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.R39Q|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000414542.2_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	66					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				ACGGTGTCGCGGACCGGGCGG	0.652000													11	18					0	0	0.001855	0	0
PIM2	11040	broad.mit.edu	37	X	48776077	48776077	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:48776077G>A	ENST00000376509.4	-	1	224	c.35C>T	c.(34-36)cCc>cTc	p.P12L		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	12					anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGTCCCGGGGGGCGCGGGAGG	0.701000													19	11					0	0	0.004656	0	0
SPINK13	153218	broad.mit.edu	37	5	147661795	147661795	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:147661795G>A	ENST00000512953.1	+	5	767		c.e5+1		SPINK13_ENST00000398450.4_Splice_Site|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Splice_Site			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)							extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ttgaacagaggtaagttcaga	0.383000													16	28					0	0	0.003163	0	0
RYR3	6263	broad.mit.edu	37	15	34105726	34105726	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:34105726G>A	ENST00000389232.4	+	74	10518	c.10448G>A	c.(10447-10449)cGg>cAg	p.R3483Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3478Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3483					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAAGCAACGGAAACGGGCA	0.512000													14	97					0	0	0.004007	0	0
RGL1	23179	broad.mit.edu	37	1	183711422	183711422	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:183711422G>A	ENST00000304685.3	+	2	591	c.130G>A	c.(130-132)Gag>Aag	p.E44K	RGL1_ENST00000367531.1_Missense_Mutation_p.E44K|RGL1_ENST00000536277.1_Missense_Mutation_p.E44K	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAAGACAGAGGAGGTAAGATG	0.438000													9	58					0	0	0.006214	0	0
MFSD7	84179	broad.mit.edu	37	4	680023	680023	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:680023C>T	ENST00000322224.4	-	3	676	c.363G>A	c.(361-363)ggG>ggA	p.G121G	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Silent_p.G57G|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000404286.2_Silent_p.G121G			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	121					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGTTTTGGGTCCCAACAACCA	0.622000													12	26					0	0	0.001368	0	0
C6	729	broad.mit.edu	37	5	41143057	41143057	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41143057C>T	ENST00000263413.3	-	18	2939	c.2675G>A	c.(2674-2676)gGa>gAa	p.G892E	C6_ENST00000337836.5_Missense_Mutation_p.G892E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	892	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAGTTGGTTTCCACCCTTGAA	0.443000													26	44					0	0	0.005443	0	0
CCDC57	284001	broad.mit.edu	37	17	80159600	80159600	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:80159600T>C	ENST00000389641.4	-	2	257	c.221A>G	c.(220-222)tAt>tGt	p.Y74C	CCDC57_ENST00000392343.3_Missense_Mutation_p.Y74C|CCDC57_ENST00000392347.1_Missense_Mutation_p.Y74C			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	74										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGCGGCGTCATAGCGCTCCAG	0.652000													11	43					0	0	0.000978	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364271	47364271	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:47364271G>A	ENST00000399249.2	-	16	1536	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	MYBPC3_ENST00000256993.4_Silent_p.T493T|MYBPC3_ENST00000545968.1_Silent_p.T494T			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	493	Ig-like C2-type 3.		R -> G (in CMH4).|R -> Q (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCCTCCCGGGTCAGCTCCA	0.622000													44	73					0	0	0.003610	0	0
ZNF451	26036	broad.mit.edu	37	6	57012021	57012021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:57012021C>T	ENST00000370706.4	+	10	1382	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H380Y|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H380Y|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CACCCAAAATCATAAGCAGAA	0.423000													13	44					0	0	0.004007	0	0
PTGS2	5743	broad.mit.edu	37	1	186646891	186646891	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186646891G>A	ENST00000367468.5	-	5	665	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	177					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAGCCCTGGGGATCAGGGATG	0.423000													20	34					0	0	0.008871	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691095	18691095	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:18691095G>A	ENST00000433979.1	+	24	3322	c.3206G>A	c.(3205-3207)cGa>cAa	p.R1069Q	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1110Q|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R1069Q	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1069	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACAGGGACCGAGCTCCTTTC	0.368000													16	55					0	0	0.004007	0	0
STK10	6793	broad.mit.edu	37	5	171471913	171471913	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:171471913G>A	ENST00000176763.5	-	19	3223	c.2880C>T	c.(2878-2880)ttC>ttT	p.F960F		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	960							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACTGTAGGGGAAGAACTTGG	0.582000													22	58					0	0	0.002299	0	0
SSX9	280660	broad.mit.edu	37	X	48159148	48159148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:48159148C>T	ENST00000376909.1	-	6	447	c.385G>A	c.(385-387)Gca>Aca	p.A129T	SSX9_ENST00000407081.2_Missense_Mutation_p.A129T																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						AAGCCAGATGCTTCTGGCACT	0.453000													123	61					0	0	0.003610	0	0
CD180	4064	broad.mit.edu	37	5	66480226	66480226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:66480226C>T	ENST00000256447.4	-	3	602	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	149					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCCAAGTTTTCCAGATTGTGC	0.418000													48	94					0	0	0.003610	0	0
MDM1	56890	broad.mit.edu	37	12	68696423	68696423	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:68696423C>G	ENST00000303145.7	-	12	2035	c.1949G>C	c.(1948-1950)aGa>aCa	p.R650T	MDM1_ENST00000540418.1_Missense_Mutation_p.R370T|MDM1_ENST00000411698.2_Missense_Mutation_p.R615T	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	650						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTCTGGATCTCTAAGAGAGCC	0.383000													16	615					0	0	0.006122	0	0
TMOD3	29766	broad.mit.edu	37	15	52192439	52192439	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:52192439C>T	ENST00000308580.7	+	8	1104	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	TMOD3_ENST00000544199.1_Silent_p.L275L|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	275						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		GATTCTGGCACTGATTGATGC	0.418000													13	27					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141122354	141122354	+	Splice_Site	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:141122354T>C	ENST00000389484.3	-	72	11980		c.e72-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TATTTCCTCCTTTATTTTAAA	0.378000										TSP Lung(27;0.18)			35	86					0	0	0.005524	0	0
KLKB1	3818	broad.mit.edu	37	4	187179221	187179221	+	Missense_Mutation	SNP	G	G	A	rs146525902	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:187179221G>A	ENST00000264690.6	+	15	1959	c.1772G>A	c.(1771-1773)cGt>cAt	p.R591H	KLKB1_ENST00000513864.1_Silent_p.A544A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	591	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAATGTGGCGTTTGGTGGGC	0.473000													13	75					0	0	0.004990	0	0
SGIP1	84251	broad.mit.edu	37	1	67147836	67147836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:67147836C>T	ENST00000371037.4	+	15	1176	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P371S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	367	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCCTGGGCCTCCTCGCAATGT	0.567000													56	152					0	0	0.003610	0	0
PCDH9	5101	broad.mit.edu	37	13	67799944	67799944	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:67799944G>A	ENST00000544246.1	-	2	3320	c.2629C>T	c.(2629-2631)Ccc>Tcc	p.P877S	PCDH9_ENST00000377865.2_Missense_Mutation_p.P877S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P877S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P877S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P877S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	877					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGCTTTTGGGAGACTTCCTT	0.443000													17	71					0	0	0.004007	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718988	108718988	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:108718988G>A	ENST00000218006.2	-	2	469	c.178C>T	c.(178-180)Cct>Tct	p.P60S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	60					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAAGCCCAAGGGCCCACCACC	0.552000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	18					0	0	0.003330	0	0
ERG	2078	broad.mit.edu	37	21	39774508	39774508	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:39774508G>A	ENST00000442448.1	-	7	936	c.665C>T	c.(664-666)tCt>tTt	p.S222F	ERG_ENST00000398905.1_Missense_Mutation_p.S215F|ERG_ENST00000398907.1_Missense_Mutation_p.S215F|ERG_ENST00000398897.1_Missense_Mutation_p.S123F|ERG_ENST00000417133.2_Missense_Mutation_p.S222F|ERG_ENST00000398911.1_Missense_Mutation_p.S222F|ERG_ENST00000398910.1_Missense_Mutation_p.S222F|ERG_ENST00000453032.2_Missense_Mutation_p.S123F|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.S215F|ERG_ENST00000398919.2_Missense_Mutation_p.S222F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	222					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TAACCGTGGAGAGTTTTGTAA	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								14	38					0	0	0.004990	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999848	46999848	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:46999848C>G	ENST00000374314.4	+	1	1923	c.968C>G	c.(967-969)gCc>gGc	p.A323G	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A323G			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	323										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AATGACTTGGCCCCTGCAGAG	0.647000													14	46					0	0	0.004007	0	0
FER1L6	654463	broad.mit.edu	37	8	125061927	125061927	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:125061927T>A	ENST00000522917.1	+	22	3010	c.2804T>A	c.(2803-2805)tTa>tAa	p.L935*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.L935*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	935						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCCCAGGTTATGCTATCAC	0.502000													29	52					0	0	0.007291	0	0
MT1A	4489	broad.mit.edu	37	16	56673228	56673228	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:56673228C>T	ENST00000290705.8	+	2	154	c.81C>T	c.(79-81)acC>acT	p.T27T		NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	27	Beta.		T -> N (in dbSNP:rs11640851).			cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						GCAAATGCACCTCCTGCAAGA	0.527000													13	19					0	0	0.004990	0	0
CHFR	55743	broad.mit.edu	37	12	133438076	133438076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:133438076G>A	ENST00000266880.7	-	7	827	c.764C>T	c.(763-765)cCc>cTc	p.P255L	CHFR_ENST00000315585.7_Missense_Mutation_p.P214L|CHFR_ENST00000443047.2_Missense_Mutation_p.P163L|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.P243L|CHFR_ENST00000432561.2_Missense_Mutation_p.P255L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	255					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTTCTTCACGGGCTCCAAATC	0.567000													21	57					0	0	0.003330	0	0
AE000661.37	0	broad.mit.edu	37	14	22932242	22932242	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22932242G>A	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							AGATTATGGGGAACAAGAATT	0.423000													24	31					0	0	0.005443	0	0
HCN4	10021	broad.mit.edu	37	15	73635884	73635884	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:73635884G>A	ENST00000261917.3	-	2	2044	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	351					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGTCCACGGGGATGGAGGAA	0.527000													41	44					0	0	0.002852	0	0
NUB1	51667	broad.mit.edu	37	7	151065825	151065825	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:151065825G>A	ENST00000568733.1	+	11	1238	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	NUB1_ENST00000413040.2_Missense_Mutation_p.R391H|NUB1_ENST00000355851.4_Missense_Mutation_p.R367H|NUB1_ENST00000566856.1_Missense_Mutation_p.R367H			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	367	UBA 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CTCTAGGCACGTCAGCTCTTT	0.418000											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	168	65					0	0	0.003610	0	0
TH	7054	broad.mit.edu	37	11	2189797	2189797	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:2189797G>A	ENST00000381178.1	-	4	522	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TH_ENST00000352909.3_Silent_p.R137R|TH_ENST00000333684.5_Silent_p.R141R|TH_ENST00000381175.1_Silent_p.R164R	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	168					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGTCCCCTCGGCGCACCTCGA	0.682000													8	23					0	0	0.003080	0	0
FGA	2243	broad.mit.edu	37	4	155505503	155505503	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:155505503C>T	ENST00000302053.3	-	6	2452	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	792	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CACTGGTCTGCATCCCTGTCA	0.527000													32	60					0	0	0.002096	0	0
PCK1	5105	broad.mit.edu	37	20	56138725	56138725	+	Silent	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56138725C>G	ENST00000319441.4	+	6	1067	c.903C>G	c.(901-903)ccC>ccG	p.P301P	PCK1_ENST00000535860.1_Silent_p.P169P|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	301					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGCCTCCCCGGGTGGAAGG	0.557000													56	68					0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48597683	48597683	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:48597683G>A	ENST00000537810.1	-	15	1776	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	FRYL_ENST00000506685.1_Missense_Mutation_p.P97L|FRYL_ENST00000507711.1_Missense_Mutation_p.P391L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.P391L|FRYL_ENST00000358350.4_Missense_Mutation_p.P391L			O94915	FRYL_HUMAN	FRY-like	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGAGCCTTTTGGAAAAAGTGC	0.388000													7	26					0	0	0.004482	0	0
SKAP1	8631	broad.mit.edu	37	17	46474085	46474085	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:46474085G>A	ENST00000336915.6	-	2	178	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	SKAP1_ENST00000584924.1_Missense_Mutation_p.H37Y	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	37					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGGTCTCTGTGATCCCTTGCA	0.378000													109	127					0	0	0.003610	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692072	106692072	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:106692072G>A	ENST00000390607.2	-	0	125																											ACTTTTCCATGATTCACCTTC	0.478000													47	93					0	0	0.003610	0	0
TTC39A	22996	broad.mit.edu	37	1	51753901	51753901	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:51753901C>T	ENST00000447632.2	-	18	1818	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	TTC39A_ENST00000451380.1_Silent_p.Q554Q|TTC39A_ENST00000262675.7_Silent_p.Q527Q|TTC39A_ENST00000530004.1_Silent_p.Q198Q|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000371750.5_Silent_p.Q555Q|TTC39A_ENST00000413473.2_Silent_p.Q558Q			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	590							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GTGTGGCTGCCTGGATTCGAA	0.512000													18	49					0	0	0.008871	0	0
KIAA1009	22832	broad.mit.edu	37	6	84895009	84895009	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:84895009G>A	ENST00000403245.3	-	13	1673	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	KIAA1009_ENST00000257766.4_Missense_Mutation_p.S444L|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	520					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTGAGTGGTGAACTGGGTTT	0.408000													56	121					0	0	0.003610	0	0
RRP1	8568	broad.mit.edu	37	21	45217384	45217384	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45217384C>T	ENST00000497547.1	+	6	621	c.504C>T	c.(502-504)caC>caT	p.H168H	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	168					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGAAGAGCCACTTCATCGAGA	0.602000													16	30					0	0	0.004007	0	0
TATDN2	9797	broad.mit.edu	37	3	10311938	10311938	+	Missense_Mutation	SNP	C	C	T	rs139610197		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:10311938C>T	ENST00000287652.4	+	4	2123	c.1072C>T	c.(1072-1074)Ccg>Tcg	p.P358S	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.P358S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	358			P -> L (in dbSNP:rs2075352).			nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTCAGCCGTTCCGGAGCCTTC	0.532000													53	111					0	0	0.003610	0	0
POM121L12	285877	broad.mit.edu	37	7	53103793	53103793	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:53103793C>T	ENST00000408890.4	+	1	445	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	143										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGATCGCGCCCCCTGAGCGTC	0.711000													12	20					0	0	0.002450	0	0
ABCA10	10349	broad.mit.edu	37	17	67178296	67178296	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:67178296G>A	ENST00000269081.4	-	23	3676	c.2767C>T	c.(2767-2769)Cgt>Tgt	p.R923C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	923					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)					CTACTTACACGAGAAAATGAA	0.393000													8	21					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25333045	25333045	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:25333045G>A	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CCATGTATAGGAAATTTCTTG	0.478000													3	2					0	0	0.004672	0	0
C1orf87	127795	broad.mit.edu	37	1	60506689	60506689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:60506689C>T	ENST00000371201.3	-	4	564	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	153							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCCTCTCACCATCTGTTCC	0.463000													31	107					0	0	0.009535	0	0
GBX1	2636	broad.mit.edu	37	7	150846056	150846056	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:150846056C>T	ENST00000297537.4	-	2	711	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	238						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGCTTCCCTTTAGCTTC	0.642000													48	185					0	0	0.003610	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033984	52033984	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:52033984G>A	ENST00000346477.3	-	3	725	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SIGLEC6_ENST00000359982.4_Silent_p.F219F|SIGLEC6_ENST00000436458.1_Silent_p.F183F|SIGLEC6_ENST00000343300.4_Silent_p.F219F|SIGLEC6_ENST00000391797.3_Silent_p.F208F|SIGLEC6_ENST00000425629.3_Silent_p.F219F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	219	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGGCTCCAGGGAACGTCACCT	0.667000													39	66					0	0	0.008740	0	0
MYOCD	93649	broad.mit.edu	37	17	12666456	12666456	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:12666456C>T	ENST00000425538.1	+	14	2656	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S771F|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	771					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGATCTTCCCGAAGTCCA	0.498000													16	89					0	0	0.004990	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333934	28333934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:28333934G>A	ENST00000377255.3	+	7	1786	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E349K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E497K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	497					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGGCCTCATTGAACATCAAAA	0.398000													16	32					0	0	0.003163	0	0
KL	9365	broad.mit.edu	37	13	33635593	33635593	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:33635593G>A	ENST00000380099.3	+	4	2385	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	793	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CACTGAAGATGAAAAAAAGCT	0.398000													18	33					0	0	0.004990	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090907	143090907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:143090907G>A	ENST00000367603.2	-	5	5711	c.4969C>T	c.(4969-4971)Ccc>Tcc	p.P1657S	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1657S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1657S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACATAATTGGGTTTTGTATAA	0.448000													27	39					0	0	0.005443	0	0
MACF1	23499	broad.mit.edu	37	1	39910341	39910341	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:39910341A>T	ENST00000564288.1	+	80	20216	c.19439A>T	c.(19438-19440)tAt>tTt	p.Y6480F	MACF1_ENST00000539005.1_Missense_Mutation_p.Y4291F|MACF1_ENST00000567887.1_Missense_Mutation_p.Y6517F|MACF1_ENST00000545844.1_Missense_Mutation_p.Y4421F|MACF1_ENST00000361689.2_Missense_Mutation_p.Y4421F|MACF1_ENST00000317713.7_Missense_Mutation_p.Y4421F|MACF1_ENST00000289893.4_Missense_Mutation_p.Y4923F|MACF1_ENST00000372915.3_Missense_Mutation_p.Y6379F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6489					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGGAACTCTATTCCCAGCTG	0.448000													12	24					0	0	0.001368	0	0
SPARCL1	8404	broad.mit.edu	37	4	88411446	88411446	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:88411446C>T	ENST00000418378.1	-	8	2081	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.D504N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D379N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	504	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCAAAATAATCCAGCTGGAGT	0.458000													75	165					0	0	0.003610	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:220315224C>T	ENST00000366922.1	+	20	2609	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	IARS2_ENST00000302637.5_Missense_Mutation_p.R832C|IARS2_ENST00000467924.1_3'UTR			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000													16	98					0	0	0.003163	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915790	7915790	+	Missense_Mutation	SNP	G	G	A	rs61750162		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:7915790G>A	ENST00000254854.4	+	10	2129	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	660	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTGCACCATCGAGGCGTGGCT	0.587000													19	81					0	0	0.007413	0	0
HELQ	113510	broad.mit.edu	37	4	84348796	84348796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:84348796G>A	ENST00000295488.3	-	13	2758	c.2596C>T	c.(2596-2598)Ctt>Ttt	p.L866F	HELQ_ENST00000510985.1_Missense_Mutation_p.L799F	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	866							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATGAAGAAGGCTTTCAAGC	0.368000								Other identified genes with known or suspected DNA repair function					6	34					0	0	0.001984	0	0
DHRS13	147015	broad.mit.edu	37	17	27228608	27228608	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:27228608G>A	ENST00000394901.3	-	2	515	c.123C>T	c.(121-123)ttC>ttT	p.F41F	DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000378895.4_Silent_p.F91F			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	91						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAAGGCCATGAAGATGACCT	0.587000													6	70					0	0	0.001984	0	0
SGK2	10110	broad.mit.edu	37	20	42198152	42198152	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:42198152G>A	ENST00000373100.1	+	7	816	c.356G>A	c.(355-357)gGa>gAa	p.G119E	SGK2_ENST00000373077.1_Missense_Mutation_p.G118E|SGK2_ENST00000373092.3_Missense_Mutation_p.G119E|SGK2_ENST00000341458.4_Missense_Mutation_p.G179E|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Missense_Mutation_p.G145E|SGK2_ENST00000423407.3_Missense_Mutation_p.G119E			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	179	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCAACGGGGGAGAGGTGGGT	0.612000													46	53					0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	125103708	125103708	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:125103708T>A	ENST00000522917.1	+	34	4642	c.4436T>A	c.(4435-4437)aTc>aAc	p.I1479N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.I1479N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1479						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCACCGAAATCCTCACTAAG	0.453000													24	51					0	0	0.004656	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464862	73464862	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:73464862C>T	ENST00000556143.1	-	3	1365	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ZFYVE1_ENST00000553891.1_Silent_p.E215E|ZFYVE1_ENST00000318876.5_Silent_p.E215E	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	215						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CAGTGCAGGACTCCTGGGTCG	0.498000													11	48					0	0	0.000978	0	0
CTH	1491	broad.mit.edu	37	1	70881666	70881666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:70881666C>T	ENST00000411986.2	+	2	394	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	CTH_ENST00000346806.2_Missense_Mutation_p.P66S|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000370938.3_Missense_Mutation_p.P66S	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	66					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCTGGAAATCCCACTAGGAA	0.358000													15	49					0	0	0.004990	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308182	46308182	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46308182G>A	ENST00000221538.3	-	3	1123	c.981C>T	c.(979-981)ttC>ttT	p.F327F	RSPH6A_ENST00000600188.1_Silent_p.F63F|RSPH6A_ENST00000597055.1_Silent_p.F327F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	327						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCATGGCCAGGAAAATGCGGA	0.617000													20	33					0	0	0.008871	0	0
FBF1	85302	broad.mit.edu	37	17	73910122	73910122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:73910122C>T	ENST00000586717.1	-	26	3229	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	FBF1_ENST00000389570.4_Missense_Mutation_p.E987K|FBF1_ENST00000319129.5_Missense_Mutation_p.E986K			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	986										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCGTACTTCTCGGAGGCCACC	0.697000													6	10					0	0	0.004482	0	0
PDE1A	5136	broad.mit.edu	37	2	183387070	183387070	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:183387070C>T	ENST00000435564.1	-	1	234	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	PDE1A_ENST00000456212.1_Missense_Mutation_p.E12K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E12K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E12K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E12K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	12					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTGGTGTTTTCCAATTCTTCA	0.423000													23	49					0	0	0.004656	0	0
FSTL1	11167	broad.mit.edu	37	3	120128466	120128466	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:120128466G>A	ENST00000295633.3	-	6	731	c.375C>T	c.(373-375)atC>atT	p.I125I	FSTL1_ENST00000424703.2_Silent_p.I90I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	125					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GCCACTGGATGATGCGACGTC	0.498000													24	51					0	0	0.003954	0	0
SEC16B	89866	broad.mit.edu	37	1	177935080	177935080	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:177935080A>G	ENST00000308284.6	-	3	449	c.360T>C	c.(358-360)gcT>gcC	p.A120A	RP4-798P15.3_ENST00000528461.1_Silent_p.A120A|SEC16B_ENST00000464631.1_Silent_p.A120A|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	120	Required for endoplasmic reticulum localization.|Tyr-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AACTTCCATAAGCATATTCCT	0.458000													4	9					0	0	0.009096	0	0
THSD7B	80731	broad.mit.edu	37	2	137990579	137990579	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:137990579G>A	ENST00000409968.1	+	9	2204	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D676N|THSD7B_ENST00000413152.2_Missense_Mutation_p.D645N					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGTTCTGAGGACACATTGGT	0.512000													27	54					0	0	0.005443	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208831	140208831	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140208831G>A	ENST00000529310.1	+	1	1269	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.V385V|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGCAGGTGAACTGCTCGC	0.542000													57	127					0	0	0.003610	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36927333	36927333	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:36927333G>A	ENST00000269554.3	-	8	1480	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	334	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AAGAACCGAGGAAAGCTGAGG	0.582000													5	51					0	0	0.001168	0	0
MVB12A	93343	broad.mit.edu	37	19	17533260	17533260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17533260C>T	ENST00000317040.7	+	4	1461	c.406C>T	c.(406-408)Cga>Tga	p.R136*	MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000529939.1_Nonsense_Mutation_p.R136*|MVB12A_ENST00000543795.1_Nonsense_Mutation_p.R136*|MVB12A_ENST00000392702.2_Nonsense_Mutation_p.R136*					multivesicular body subunit 12A																		TGGATACCTTCGAATAGGGTA	0.582000													5	36					0	0	0.000602	0	0
LARGE	9215	broad.mit.edu	37	22	34046453	34046453	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:34046453G>A	ENST00000354992.2	-	4	879	c.308C>T	c.(307-309)tCc>tTc	p.S103F	LARGE_ENST00000402320.1_Missense_Mutation_p.S103F|LARGE_ENST00000437602.2_Missense_Mutation_p.S103F|LARGE_ENST00000337431.2_Missense_Mutation_p.S103F|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Missense_Mutation_p.S103F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	103					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CTCCTCCATGGAGTAGGTCTT	0.672000													30	62					0	0	0.002445	0	0
CHDC2	286464	broad.mit.edu	37	X	36162702	36162702	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:36162702G>A	ENST00000378660.1	+	11	1473	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	CHDC2_ENST00000313548.4_Missense_Mutation_p.E429K					calponin homology domain containing 2																		gtttccaaaggagatggatgc	0.468000													14	14					0	0	0.003163	0	0
RASAL3	64926	broad.mit.edu	37	19	15569364	15569364	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15569364G>A	ENST00000343625.6	-	7	845	c.765C>T	c.(763-765)ctC>ctT	p.L255L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	255	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCTCCCCCAGGAGGCTGGGGT	0.632000													8	20					0	0	0.004482	0	0
ABCC6	368	broad.mit.edu	37	16	16267203	16267203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:16267203G>A	ENST00000205557.7	-	21	2754	c.2725C>T	c.(2725-2727)Cct>Tct	p.P909S		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	909					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCATCCAGAGGAACCTCTGTC	0.552000													26	30					0	0	0.004656	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058585	152058585	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:152058585G>T	ENST00000408960.3	-	1	194	c.109C>A	c.(109-111)Cag>Aag	p.Q37K	MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	37						integral to membrane				lung(1)	1						GAAGGGGACTGGACAGAACCT	0.502000													21	44					1.37657e-19	1.59671e-19	0.001882	1	0
FAM154A	158297	broad.mit.edu	37	9	18928172	18928172	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:18928172C>T	ENST00000380534.4	-	4	1582	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.V243M	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	435										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAAGCATCCACTTCCTCAAAG	0.507000													22	34					0	0	0.002780	0	0
AOX1	316	broad.mit.edu	37	2	201462153	201462153	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:201462153C>T	ENST00000374700.2	+	4	475	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	78	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGATTCCCATCTGTTCTCTGT	0.483000													20	51					0	0	0.010504	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765850	77765850	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77765850G>A	ENST00000521891.2	+	10	7141	c.6693G>A	c.(6691-6693)acG>acA	p.T2231T	ZFHX4_ENST00000050961.6_Silent_p.T2186T|ZFHX4_ENST00000455469.2_Silent_p.T2186T|ZFHX4_ENST00000518282.1_Silent_p.T2205T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2215T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCTAGAACGAGATTTACTG	0.383000										HNSCC(33;0.089)			21	35					0	0	0.008871	0	0
PLCE1	51196	broad.mit.edu	37	10	96081674	96081674	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96081674A>T	ENST00000260766.3	+	30	6993	c.6359A>T	c.(6358-6360)aAc>aTc	p.N2120I	PLCE1_ENST00000371380.2_Missense_Mutation_p.N2120I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.N1812I|PLCE1_ENST00000371385.3_Missense_Mutation_p.N1812I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2120					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGAGAAAAACATTGTTCAA	0.358000													9	10					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179664322	179664322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179664322G>A	ENST00000589042.1	-	6	1030	c.806C>T	c.(805-807)cCg>cTg	p.P269L	TTN_ENST00000359218.5_Missense_Mutation_p.P269L|TTN_ENST00000342992.6_Missense_Mutation_p.P269L|TTN_ENST00000360870.5_Missense_Mutation_p.P269L|TTN_ENST00000460472.2_Missense_Mutation_p.P269L|TTN_ENST00000342175.6_Missense_Mutation_p.P269L|TTN_ENST00000591111.1_Missense_Mutation_p.P269L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	269	ZIS1.						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)			AGCAATAGACGGTGGTGTTGG	0.582000													26	58					0	0	0.004656	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562817	11562817	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:11562817C>T	ENST00000294484.6	+	3	1317	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	PTCHD2_ENST00000389575.3_Silent_p.S393S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	393					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGAAGAGCTCCCTCCTGCGCA	0.572000													15	27					0	0	0.003163	0	0
LRFN2	57497	broad.mit.edu	37	6	40400441	40400441	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:40400441C>T	ENST00000338305.6	-	2	954	c.412G>A	c.(412-414)Ggc>Agc	p.G138S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	138						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTGCGATGCCGCCCAGCTGG	0.597000													11	38					0	0	0.001368	0	0
PCSK4	54760	broad.mit.edu	37	19	1487053	1487053	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:1487053C>T	ENST00000300954.5	-	8	928	c.867G>A	c.(865-867)ggG>ggA	p.G289G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	289	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCGTGCCCAGCCCGCCGCGGC	0.697000													8	19					0	0	0.006214	0	0
RRP7A	27341	broad.mit.edu	37	22	42908928	42908928	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:42908928G>A	ENST00000323013.6	-	7	846	c.831C>T	c.(829-831)ttC>ttT	p.F277F		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	277							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						AGTACGGTCGGAATTTGCGCT	0.657000													12	19					0	0	0.001855	0	0
USP29	57663	broad.mit.edu	37	19	57642045	57642045	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:57642045A>G	ENST00000254181.4	+	4	2456	c.2002A>G	c.(2002-2004)Aag>Gag	p.K668E	USP29_ENST00000598197.1_Missense_Mutation_p.K668E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	668					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATGGAGGGAAGCTGATCAG	0.473000													18	33					0	0	0.007413	0	0
FAM47A	158724	broad.mit.edu	37	X	34150261	34150261	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:34150261G>A	ENST00000346193.3	-	1	186	c.135C>T	c.(133-135)acC>acT	p.T45T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	45										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCAGTTCTGGGTGTCCATGG	0.577000													29	23					0	0	0.007291	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919715	142919715	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:142919715G>A	ENST00000408947.3	+	1	586	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	182					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CAACTCCACGGAGAAGAAGTA	0.458000													87	84					0	0	0.003610	0	0
PAF1	54623	broad.mit.edu	37	19	39879204	39879204	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39879204C>T	ENST00000221265.3	-	10	1183	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PAF1_ENST00000221266.7_Missense_Mutation_p.D252N|PAF1_ENST00000595564.1_Missense_Mutation_p.D275N	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	285					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGCACACATCATCTGGTGCA	0.507000													46	67					0	0	0.003214	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573917	136573917	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:136573917C>T	ENST00000446465.2	+	2	1243	c.615C>T	c.(613-615)ttC>ttT	p.F205F	RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.F205F|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	205	DUF6 1.					Golgi apparatus|integral to membrane											CTACAGTCTTCAGTGCCATTT	0.408000													23	60					0	0	0.002299	0	0
C2orf54	79919	broad.mit.edu	37	2	241826495	241826495	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:241826495C>T	ENST00000307486.8	-	5	987	c.889G>A	c.(889-891)Gag>Aag	p.E297K	C2orf54_ENST00000388934.4_Missense_Mutation_p.E446K|C2orf54_ENST00000402775.2_Missense_Mutation_p.E278K			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	446										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTCAGCTCTCCTCGCCTCCC	0.572000													14	37					0	0	0.003163	0	0
ZNF569	148266	broad.mit.edu	37	19	37904033	37904033	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37904033G>A	ENST00000316950.6	-	6	2084	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	ZNF569_ENST00000392149.2_Silent_p.F509F|ZNF569_ENST00000392150.2_Silent_p.F350F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTGTAATGAAGTTTTGCT	0.363000													13	46					0	0	0.001368	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175844	140175844	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:140175844C>T	ENST00000526136.1	+	1	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHA2_ENST00000378132.1_Missense_Mutation_p.S432L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S432L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCACTG	0.622000													37	88					0	0	0.003271	0	0
GC	2638	broad.mit.edu	37	4	72620730	72620730	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:72620730C>T	ENST00000273951.8	-	9	1472	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.D377N|GC_ENST00000504199.1_Missense_Mutation_p.D396N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	377	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCTTCAACATCACAGCATTCA	0.383000													11	38					0	0	0.002450	0	0
EPHA10	284656	broad.mit.edu	37	1	38184120	38184120	+	Missense_Mutation	SNP	C	C	T	rs150426144	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38184120C>T	ENST00000373048.4	-	17	2950	c.2951G>A	c.(2950-2952)cGa>cAa	p.R984Q	EPHA10_ENST00000330210.7_Missense_Mutation_p.R479Q|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R984Q	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	984	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R985Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGGCCTCTCGATGTTCAGC	0.617000													40	60					0	0	0.002852	0	0
NBPF9	400818	broad.mit.edu	37	1	144828544	144828544	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:144828544C>T	ENST00000440491.2	+	16	1811	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.L530L|NBPF9_ENST00000281815.8_Silent_p.L128L	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TTTCCAGGCTCAACGGCGTGC	0.453000													20	126					0	0	0.003330	0	0
OR2G3	81469	broad.mit.edu	37	1	247769766	247769766	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:247769766G>A	ENST00000320002.2	+	1	911	c.879G>A	c.(877-879)agG>agA	p.R293R	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACTTTAAGGAACAAGGATA	0.423000													22	53					0	0	0.002780	0	0
SNAP91	9892	broad.mit.edu	37	6	84317473	84317473	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:84317473C>T	ENST00000428679.2	-	13	1560	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SNAP91_ENST00000520302.1_Missense_Mutation_p.D321N|SNAP91_ENST00000521743.1_Missense_Mutation_p.D323N|SNAP91_ENST00000521485.1_Missense_Mutation_p.D323N|SNAP91_ENST00000369694.2_Missense_Mutation_p.D323N|SNAP91_ENST00000520213.1_Missense_Mutation_p.D307N|SNAP91_ENST00000195649.6_Missense_Mutation_p.D323N|SNAP91_ENST00000437520.1_Missense_Mutation_p.D307N|SNAP91_ENST00000439399.2_Missense_Mutation_p.D323N			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	323					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGGATGTGTCAATAGTTTTA	0.383000													5	6					0	0	0.003080	0	0
PDE6B	5158	broad.mit.edu	37	4	650789	650789	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:650789G>A	ENST00000255622.6	+	9	1277	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E412K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E133K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	412	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCCTTTGACGAACAGGACGA	0.597000													17	32					0	0	0.008871	0	0
DOCK9	23348	broad.mit.edu	37	13	99540745	99540745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:99540745G>A	ENST00000376460.1	-	17	1926	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	DOCK9_ENST00000448493.2_Missense_Mutation_p.P628S|DOCK9_ENST00000339416.2_Missense_Mutation_p.P617S|DOCK9_ENST00000442173.1_Missense_Mutation_p.P616S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	617					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACGTGATGGGAGTTTTACTG	0.363000													31	50					0	0	0.002096	0	0
TMC3	342125	broad.mit.edu	37	15	81627135	81627135	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:81627135C>T	ENST00000558726.1	-	21	2523	c.2388G>A	c.(2386-2388)ccG>ccA	p.P796P	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.P795P|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	795						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCCCTGGCCTCGGGCTCTGGG	0.592000													19	90					0	0	0.008871	0	0
WNT9A	7483	broad.mit.edu	37	1	228109363	228109363	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228109363G>A	ENST00000272164.5	-	4	964	c.954C>T	c.(952-954)aaC>aaT	p.N318N	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	318					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGCTCTCGCAGTTCTTCTCAC	0.647000													6	11					0	0	0.001168	0	0
TRRAP	8295	broad.mit.edu	37	7	98565207	98565207	+	Silent	SNP	C	C	T	rs139721649		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:98565207C>T	ENST00000359863.4	+	50	7586	c.7377C>T	c.(7375-7377)ttC>ttT	p.F2459F	TRRAP_ENST00000446306.3_Silent_p.F2441F|TRRAP_ENST00000355540.3_Silent_p.F2441F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2459					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.F2441F(2)|p.F2459F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGTTTTTCGAGGTTTTTG	0.552000													72	32					0	0	0.003610	0	0
SDC1	6382	broad.mit.edu	37	2	20403773	20403773	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:20403773G>A	ENST00000381150.1	-	4	818	c.428C>T	c.(427-429)aCc>aTc	p.T143I	SDC1_ENST00000254351.4_Missense_Mutation_p.T143I|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.T143I	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	143					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTGGGCCGTGGTGGCTGTGGT	0.692000													29	84					0	0	0.002836	0	0
GK2	2712	broad.mit.edu	37	4	80328892	80328892	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:80328892G>A	ENST00000358842.3	-	1	480	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408000													32	74					0	0	0.002096	0	0
KLK11	11012	broad.mit.edu	37	19	51528040	51528040	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51528040C>T	ENST00000594768.1	-	3	332	c.147G>A	c.(145-147)ggG>ggA	p.G49G	KLK11_ENST00000391804.3_Silent_p.G17G|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Silent_p.G17G|KLK11_ENST00000453757.3_Silent_p.G17G|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	49			G -> E (in dbSNP:rs3745539).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGGTCTCTCCCCCTACAAGCC	0.617000													10	12					0	0	0.000978	0	0
DSG4	147409	broad.mit.edu	37	18	28966657	28966657	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:28966657G>A	ENST00000359747.4	+	3	120	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E31K|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	31					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAGGTGAAGGAATTTGACAT	0.383000													10	43					0	0	0.008291	0	0
NBEA	26960	broad.mit.edu	37	13	35615209	35615209	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:35615209G>A	ENST00000400445.3	+	2	968	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	NBEA_ENST00000379939.2_Missense_Mutation_p.R145Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R145Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R145Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	145						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCATTCTACGAAAAAGTGTT	0.408000													30	56					0	0	0.007291	0	0
PXDNL	137902	broad.mit.edu	37	8	52321488	52321488	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:52321488A>T	ENST00000356297.4	-	17	2796	c.2696T>A	c.(2695-2697)gTt>gAt	p.V899D	PXDNL_ENST00000543296.1_Missense_Mutation_p.V899D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	899					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTCCCGTAAACGTTGGAGCC	0.622000													18	49					0	0	0.010504	0	0
FBXO4	26272	broad.mit.edu	37	5	41941382	41941382	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41941382G>T	ENST00000281623.3	+	7	1219	c.1163G>T	c.(1162-1164)tGa>tTa	p.*388L	FBXO4_ENST00000509134.1_3'UTR	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	0					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				CGTGCAAGATGATTCTCTTTT	0.408000													13	40					6.72482e-11	7.76539e-11	0.003163	1	0
CORO6	84940	broad.mit.edu	37	17	27943746	27943746	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:27943746C>T	ENST00000345068.5	-	8	1191	c.978G>A	c.(976-978)ctG>ctA	p.L326L	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.L326L|CORO6_ENST00000445145.2_Silent_p.L326L|CORO6_ENST00000580212.1_Silent_p.L286L|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000388767.3_Silent_p.L326L|CORO6_ENST00000456796.3_Silent_p.L92L			Q6QEF8	CORO6_HUMAN	coronin 6	326					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGCTGACATCCAGTCCCCTTT	0.607000													16	82					0	0	0.003163	0	0
FAM27L	284123	broad.mit.edu	37	17	21825515	21825515	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:21825515G>A	ENST00000426869.3	+	0	219					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cgaaaccacaggcagagtccg	0.647000													12	50					0	0	0.001855	0	0
FANCB	2187	broad.mit.edu	37	X	14868791	14868791	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:14868791T>A	ENST00000398334.1	-	7	1599	c.1332A>T	c.(1330-1332)gaA>gaT	p.E444D	FANCB_ENST00000324138.3_Missense_Mutation_p.E444D	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	444					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAACAAGACATTCCTTCTAAA	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	3					0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13920673	13920673	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13920673C>T	ENST00000265104.4	-	6	818	c.714G>A	c.(712-714)acG>acA	p.T238T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	238	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAAGTAGTCCGTAGGTTCCT	0.353000									Kartagener syndrome				25	67					0	0	0.003330	0	0
CPNE5	57699	broad.mit.edu	37	6	36714238	36714238	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:36714238A>G	ENST00000244751.2	-	16	1759	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.F87L	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	379	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGCAGGGAACATCTTGTCA	0.627000													21	49					0	0	0.001882	0	0
SYNE2	23224	broad.mit.edu	37	14	64690033	64690033	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:64690033G>A	ENST00000357395.3	+	113	20547	c.9403G>A	c.(9403-9405)Gag>Aag	p.E3135K	SYNE2_ENST00000394768.2_Missense_Mutation_p.E3135K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6773K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3407K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E628K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6666K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6750K|SYNE2_ENST00000441438.2_Missense_Mutation_p.E295K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E533K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E421K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6750					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCATGTTATTGAGAAGAAACT	0.418000													11	29					0	0	0.001368	0	0
XYLB	9942	broad.mit.edu	37	3	38414185	38414185	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38414185C>T	ENST00000207870.3	+	10	895	c.805C>T	c.(805-807)Cct>Tct	p.P269S	XYLB_ENST00000542835.1_Missense_Mutation_p.P132S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	269					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTACGGATTTCCTCCAGGATG	0.567000													24	42					0	0	0.005443	0	0
MMP27	64066	broad.mit.edu	37	11	102567566	102567566	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:102567566C>T	ENST00000260229.4	-	5	711	c.619_splice	c.e5-1	p.G207_splice		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	207					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CAAGTTGAATCCTTGATAATA	0.403000													11	14					0	0	0.000978	0	0
PTPN5	84867	broad.mit.edu	37	11	18751000	18751000	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18751000C>T	ENST00000396170.1	-	14	2772	c.1508_splice	c.e14+1	p.R503_splice	PTPN5_ENST00000358540.2_Splice_Site_p.R535_splice|PTPN5_ENST00000396171.4_Splice_Site_p.R535_splice|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Splice_Site_p.R339_splice|PTPN5_ENST00000396167.2_Splice_Site_p.R503_splice|PTPN5_ENST00000396166.3_Splice_Site_p.R141_splice|PTPN5_ENST00000396168.1_Splice_Site_p.R511_splice	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	535	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTGGGCTGACCTGTCCTGACG	0.662000													10	16					0	0	0.000978	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390556	208390556	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:208390556G>A	ENST00000367033.3	-	2	1469	c.712C>T	c.(712-714)Cac>Tac	p.H238Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	238	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGTCAAAGTGGGAGACCAGG	0.552000													41	182					0	0	0.008740	0	0
RSPO1	284654	broad.mit.edu	37	1	38082190	38082190	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:38082190G>A	ENST00000356545.2	-	5	1039	c.252C>T	c.(250-252)ttC>ttT	p.F84F	RSPO1_ENST00000401071.2_Silent_p.F84F|RSPO1_ENST00000401068.1_Silent_p.F84F|RSPO1_ENST00000401069.1_Silent_p.F84F|RSPO1_ENST00000401070.1_Silent_p.F84F|RSPO1_ENST00000373059.1_Silent_p.F57F	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	84					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.F84F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCGGGCGTCGAAGTATCCAG	0.617000													25	51					0	0	0.005443	0	0
ABCC9	10060	broad.mit.edu	37	12	22059214	22059214	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:22059214G>A	ENST00000261200.4	-	10	1463	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	ABCC9_ENST00000261201.4_Silent_p.S488S|ABCC9_ENST00000345162.2_Silent_p.S488S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	488	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCTCTCAGTGGAATAATCCT	0.373000													8	21					0	0	0.003080	0	0
HOMER1	9456	broad.mit.edu	37	5	78671949	78671949	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:78671949C>T	ENST00000334082.6	-	9	2390	c.948G>A	c.(946-948)caG>caA	p.Q316Q	HOMER1_ENST00000535690.1_Silent_p.Q142Q|HOMER1_ENST00000508576.1_3'UTR|HOMER1_ENST00000282260.6_Silent_p.Q186Q	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	316					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTTGTTCATTCTGACTTTTCT	0.383000													29	54					0	0	0.009535	0	0
RPRD2	23248	broad.mit.edu	37	1	150445502	150445502	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:150445502C>T	ENST00000401000.4	+	10	4065	c.4000C>T	c.(4000-4002)Cct>Tct	p.P1334S	RPRD2_ENST00000369068.4_Missense_Mutation_p.P1360S|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1360	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCAACGGCCCTGGCCTTAG	0.647000													20	22					0	0	0.002299	0	0
DIP2C	22982	broad.mit.edu	37	10	486818	486818	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:486818G>A	ENST00000280886.6	-	4	474	c.387C>T	c.(385-387)acC>acT	p.T129T	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Silent_p.T22T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	129						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACCTGGAGGGGTGTAGGCGT	0.582000													18	41					0	0	0.008871	0	0
ADAM32	203102	broad.mit.edu	37	8	39112000	39112000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:39112000C>T	ENST00000379907.4	+	18	2097	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	ADAM32_ENST00000519315.1_Missense_Mutation_p.S551F|ADAM32_ENST00000437682.2_Missense_Mutation_p.S558F	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	657					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CAAATACGTTCCAAAGGATTT	0.343000													7	7					0	0	0.001984	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460137	107460137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:107460137C>T	ENST00000409382.3	-	2	907	c.297G>A	c.(295-297)tgG>tgA	p.W99*	ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.W99*|ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.W99*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	99					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGACTGGGCCCATTTCTGCA	0.587000													24	50					0	0	0.003330	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161804	12161804	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:12161804C>T	ENST00000379388.2	+	8	6952	c.6620C>T	c.(6619-6621)cCc>cTc	p.P2207L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P72L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2207					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAGCCACACCCTCAGTCACA	0.507000													17	34					0	0	0.004990	0	0
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:58134512G>A	ENST00000184956.6	-	12	1992	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S659F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACGACAATGGAAATGCAGAG	0.557000													15	87					0	0	0.002450	0	0
LPIN1	23175	broad.mit.edu	37	2	11964794	11964794	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:11964794C>T	ENST00000256720.2	+	20	2643	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	LPIN1_ENST00000449576.2_Silent_p.F935F|LPIN1_ENST00000396097.1_Silent_p.F580F|LPIN1_ENST00000404113.2_Silent_p.F351F|LPIN1_ENST00000425416.2_Silent_p.F856F|LPIN1_ENST00000396099.1_Silent_p.F892F	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	850					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCACGTTTTCCCGTTGCTGA	0.502000													38	39					0	0	0.006230	0	0
UHRF2	115426	broad.mit.edu	37	9	6460786	6460786	+	Silent	SNP	C	C	T	rs142780701		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:6460786C>T	ENST00000276893.5	+	4	1026	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	286	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TGAAAATTTTCCTGGGGTAAG	0.353000													13	20					0	0	0.001368	0	0
C17orf47	284083	broad.mit.edu	37	17	56620146	56620146	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:56620146G>A	ENST00000321691.3	-	1	1583	c.1402C>T	c.(1402-1404)Cct>Tct	p.P468S	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	468										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACAGAAAGGGCTAGAGTCT	0.478000													41	181					0	0	0.006230	0	0
COL4A4	1286	broad.mit.edu	37	2	227915857	227915857	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227915857C>T	ENST00000396625.3	-	33	3193	c.2986G>A	c.(2986-2988)Ggg>Agg	p.G996R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G996R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	996	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTGCATCCCGGGAGTTCCT	0.522000													40	65					0	0	0.003214	0	0
TPTE	7179	broad.mit.edu	37	21	10969106	10969106	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:10969106C>T	ENST00000361285.4	-	7	471	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	48					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGGCTGCTCCTTTAAATTCA	0.468000													22	115					0	0	0.002780	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	G	A	rs143537709		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38888526G>A	ENST00000302328.3	-	26	5233	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1679C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000													23	57					0	0	0.001882	0	0
APOB	338	broad.mit.edu	37	2	21225258	21225258	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:21225258T>C	ENST00000233242.1	-	29	13163	c.13036A>G	c.(13036-13038)Aaa>Gaa	p.K4346E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4346					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAACAATTTAAAAACATAT	0.299000													168	350					0	0	0.003610	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989715	15989715	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15989715C>T	ENST00000221700.5	-	13	1524	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CYP4F2_ENST00000592328.1_Missense_Mutation_p.E477K	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	477					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCTTCATCTCCGCCATCGCG	0.677000													5	43					0	0	0.000602	0	0
MAP3K7	6885	broad.mit.edu	37	6	91257074	91257074	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:91257074G>A	ENST00000369329.3	-	11	1274	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	MAP3K7_ENST00000369332.3_Silent_p.S371S|MAP3K7_ENST00000369325.3_Silent_p.S371S|MAP3K7_ENST00000369320.1_Silent_p.S52S|MAP3K7_ENST00000369327.3_Silent_p.S371S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	371					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGCTCCCACGGGAGGCTCCCA	0.468000													53	144					0	0	0.003610	0	0
ATR	545	broad.mit.edu	37	3	142272230	142272230	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:142272230C>T	ENST00000350721.4	-	13	2765	c.2644G>A	c.(2644-2646)Gga>Aga	p.G882R	ATR_ENST00000383101.3_Missense_Mutation_p.G818R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	882					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACCAAATCTCCTTTTGCGGCC	0.388000								Other conserved DNA damage response genes					13	28					0	0	0.003163	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73078666	73078666	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:73078666C>T	ENST00000263674.3	+	21	6383	c.6033C>T	c.(6031-6033)tcC>tcT	p.S2011S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2011					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACCGGGACTCCCCTTGGCACC	0.647000													22	38					0	0	0.003330	0	0
COL21A1	81578	broad.mit.edu	37	6	56035891	56035891	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:56035891G>A	ENST00000244728.5	-	4	1073	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	COL21A1_ENST00000370819.1_Missense_Mutation_p.R226C|COL21A1_ENST00000535941.1_Missense_Mutation_p.R226C	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	226					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCATCACGAGCTGCCACT	0.308000													21	55					0	0	0.006320	0	0
PLCH1	23007	broad.mit.edu	37	3	155199880	155199880	+	Missense_Mutation	SNP	G	G	A	rs143608009		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155199880G>A	ENST00000460012.1	-	23	4202	c.3845C>T	c.(3844-3846)aCc>aTc	p.T1282I	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1282I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1282I|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1320I			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1320					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCTCCCTTGGTAGGACTTTT	0.502000													38	96					0	0	0.005524	0	0
NEBL	10529	broad.mit.edu	37	10	21120197	21120197	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:21120197C>T	ENST00000377122.4	-	16	1995	c.1599G>A	c.(1597-1599)ggG>ggA	p.G533G	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	533					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						GCATTCCTTTCCCTTTAATTT	0.353000													21	50					0	0	0.001882	0	0
WNK4	65266	broad.mit.edu	37	17	40936049	40936049	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:40936049C>T	ENST00000246914.5	+	3	907	c.886C>T	c.(886-888)Cct>Tct	p.P296S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	296	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCCGGGTTCCTCCCATCCT	0.617000													25	48					0	0	0.002780	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887877	30887877	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:30887877G>A	ENST00000392772.2	-	10	970	c.693C>T	c.(691-693)ggC>ggT	p.G231G	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000255858.7_Silent_p.G285G|SEC14L4_ENST00000540456.1_Silent_p.G270G|SEC14L4_ENST00000381982.3_Silent_p.G285G			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	285	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGAGCCGCGGCCCACGGACC	0.627000													11	20					0	0	0.000978	0	0
OBSCN	84033	broad.mit.edu	37	1	228487670	228487670	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228487670C>T	ENST00000570156.2	+	51	13636	c.13562C>T	c.(13561-13563)gCg>gTg	p.A4521V	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1211V|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3564					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGAAAGGCGGCCCCCGTG	0.557000													25	38					0	0	0.004656	0	0
FLCN	201163	broad.mit.edu	37	17	17124710	17124710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:17124710G>A	ENST00000389169.5	-	8	1466	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000285071.4_Intron	NM_144606.5	NP_653207.1	Q8NFG4	FLCN_HUMAN	folliculin	0					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGATCGGAGGGTGAGCTTCC	0.562000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				5	10					0	0	0.000602	0	0
LHCGR	3973	broad.mit.edu	37	2	48925938	48925938	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:48925938C>T	ENST00000294954.7	-	9	703	c.680_splice	c.e9-1	p.D228_splice	LHCGR_ENST00000405626.1_Splice_Site_p.D228_splice|LHCGR_ENST00000401907.1_Splice_Site_p.D228_splice|LHCGR_ENST00000344775.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Splice_Site_p.D228_splice	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	228					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAAGAAATATCCCTGAACAAT	0.418000													17	26					0	0	0.006122	0	0
SNCA	6622	broad.mit.edu	37	4	90650377	90650377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:90650377G>A	ENST00000394989.2	-	4	578	c.316C>T	c.(316-318)Cct>Tct	p.P106S	SNCA_ENST00000508895.1_Missense_Mutation_p.P120S|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000394986.1_Missense_Mutation_p.P120S|SNCA_ENST00000505199.1_Missense_Mutation_p.P106S|SNCA_ENST00000506244.1_Missense_Mutation_p.P120S|SNCA_ENST00000394991.3_Missense_Mutation_p.P120S|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.P120S			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	120					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TCATTGTCAGGATCCACAGGC	0.388000													29	52					0	0	0.002096	0	0
DPP10	57628	broad.mit.edu	37	2	116447276	116447276	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:116447276C>T	ENST00000410059.1	+	6	935	c.455C>T	c.(454-456)tCg>tTg	p.S152L	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.S102L|DPP10_ENST00000393147.2_Missense_Mutation_p.S156L|DPP10_ENST00000310323.8_Missense_Mutation_p.S145L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	152					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.S145L(2)|p.S152L(2)		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						TTTCATTATTCGTATACTGCT	0.264000													6	11					0	0	0.001168	0	0
XKR3	150165	broad.mit.edu	37	22	17265203	17265203	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:17265203T>C	ENST00000331428.5	-	4	788	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	229						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCGGTAGCTTAATGGTAGT	0.428000													8	27					0	0	0.004482	0	0
UNC45B	146862	broad.mit.edu	37	17	33496856	33496856	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33496856G>A	ENST00000268876.5	+	11	1550	c.1452_splice	c.e11-1	p.G485_splice	UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Splice_Site_p.G485_splice|UNC45B_ENST00000394570.2_Splice_Site_p.G485_splice|UNC45B_ENST00000378449.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	485					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCCTCCTCAGGGACTCTGTAA	0.542000													17	32					0	0	0.004990	0	0
PDZD2	23037	broad.mit.edu	37	5	31983420	31983420	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:31983420G>A	ENST00000438447.1	+	3	1024	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PDZD2_ENST00000282493.3_Silent_p.K212K			O15018	PDZD2_HUMAN	PDZ domain containing 2	212					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCGAAAAAGGGGAAACGAA	0.537000													35	81					0	0	0.004289	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821477	100821477	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:100821477C>T	ENST00000268070.4	-	4	851	c.746G>A	c.(745-747)gGg>gAg	p.G249E		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	249	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTCGGCCCCGTGGTACTG	0.652000													26	93					0	0	0.005443	0	0
ART5	116969	broad.mit.edu	37	11	3660014	3660014	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:3660014C>T	ENST00000397068.3	-	4	1222	c.830G>A	c.(829-831)gGa>gAa	p.G277E	ART5_ENST00000397067.3_3'UTR|ART5_ENST00000359918.4_Missense_Mutation_p.G277E	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	277						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCACCCGTTCCCAGGGCTCC	0.592000													36	57					0	0	0.007835	0	0
ZNF99	7652	broad.mit.edu	37	19	22939518	22939518	+	Missense_Mutation	SNP	C	C	T	rs74170737		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:22939518C>T	ENST00000397104.3	-	7	2652	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TACGGTTTCTCCCCAGTATGA	0.348000													16	41					0	0	0.003163	0	0
ZNF530	348327	broad.mit.edu	37	19	58118507	58118507	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58118507G>A	ENST00000332854.6	+	3	1834	c.1614G>A	c.(1612-1614)agG>agA	p.R538R	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCAGCATAGGAGAGTTCACA	0.458000													13	32					0	0	0.001855	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682275	69682275	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:69682275G>A	ENST00000265403.7	+	1	565	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	180					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTACTCATTTGAAAGGCACAG	0.408000													33	62					0	0	0.003755	0	0
NPR1	4881	broad.mit.edu	37	1	153660603	153660603	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:153660603G>A	ENST00000368680.3	+	15	2795	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	775	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCACCTGGAGGAGTTGGGGCT	0.632000													18	39					0	0	0.004990	0	0
FRG1B	284802	broad.mit.edu	37	20	29632695	29632695	+	Silent	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:29632695A>C	ENST00000278882.3	+	8	890	c.510A>C	c.(508-510)ggA>ggC	p.G170G	FRG1B_ENST00000358464.4_Silent_p.G170G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAAGATGGATTTTTGCATG	0.318000													21	677					0	0	0.007291	0	0
USP17L2	377630	broad.mit.edu	37	8	11996035	11996035	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:11996035C>T	ENST00000333796.3	-	1	551	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	79					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGCCCAGCCCCCACCGCAGCA	0.582000													19	110					0	0	0.002780	0	0
TMEM100	55273	broad.mit.edu	37	17	53798111	53798111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:53798111C>T	ENST00000575734.1	-	4	1129	c.321G>A	c.(319-321)tgG>tgA	p.W107*	TMEM100_ENST00000424486.2_Nonsense_Mutation_p.W107*	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	107						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GTCTCACTTTCCAGCACAAGG	0.463000													18	75					0	0	0.007413	0	0
AADACL4	343066	broad.mit.edu	37	1	12704613	12704613	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12704613C>T	ENST00000376221.1	+	1	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	16						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCATCTTTTTCCTGGGGGTCT	0.532000													47	110					0	0	0.003610	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810191	106810191	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:106810191C>T	ENST00000526355.1	-	4	1669	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D401N|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D401N	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	401					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CTTACCTTGTCTTTATTTTCA	0.423000													24	97					0	0	0.005443	0	0
TSPY2	64591	broad.mit.edu	37	Y	6115650	6115650	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrY:6115650C>T	ENST00000320701.4	+	3	658	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TSPY2_ENST00000383042.1_Silent_p.F204F	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	204					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						TCATGTTGTTCTTTCGGAGTA	0.473000													27	73					0	0	0.002836	0	0
CD1C	911	broad.mit.edu	37	1	158262655	158262655	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158262655C>T	ENST00000368170.3	+	4	1159	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	294	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGACATCATCCTCTACTGGGG	0.532000													6	26					0	0	0.001984	0	0
PLVAP	83483	broad.mit.edu	37	19	17476392	17476392	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:17476392G>A	ENST00000252590.4	-	3	943	c.882C>T	c.(880-882)atC>atT	p.I294I		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	294						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCACGCGTTCGATATCCGCCC	0.657000													10	27					0	0	0.000978	0	0
SPTA1	6708	broad.mit.edu	37	1	158582658	158582658	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:158582658G>A	ENST00000368148.3	-	51	7263	c.7083C>T	c.(7081-7083)ttC>ttT	p.F2361F	SPTA1_ENST00000368147.3_Silent_p.F2358F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2361	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGGCTTGGAAGGCATTCT	0.453000													10	40					0	0	0.006214	0	0
DYSF	8291	broad.mit.edu	37	2	71781022	71781022	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:71781022C>T	ENST00000258104.3	+	21	2293	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	DYSF_ENST00000410020.3_Silent_p.I690I|DYSF_ENST00000409762.1_Silent_p.I689I|DYSF_ENST00000429174.2_Silent_p.I672I|DYSF_ENST00000413539.2_Silent_p.I703I|DYSF_ENST00000410041.1_Silent_p.I690I|DYSF_ENST00000409744.1_Silent_p.I659I|DYSF_ENST00000394120.2_Silent_p.I673I|DYSF_ENST00000409651.1_Silent_p.I704I|DYSF_ENST00000409582.3_Silent_p.I689I|DYSF_ENST00000409366.1_Silent_p.I673I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	672						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCATAGAATCGAGACTCAGA	0.552000													14	33					0	0	0.004990	0	0
PDZD2	23037	broad.mit.edu	37	5	32088468	32088468	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:32088468G>A	ENST00000438447.1	+	20	5302	c.4914G>A	c.(4912-4914)ccG>ccA	p.P1638P	PDZD2_ENST00000282493.3_Silent_p.P1638P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1638					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGCACTCCGAGAGAGTCGG	0.577000													44	92					0	0	0.009718	0	0
SUN2	25777	broad.mit.edu	37	22	39138308	39138308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:39138308G>A	ENST00000405510.1	-	10	1424	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	SUN2_ENST00000405018.1_Nonsense_Mutation_p.Q377*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.Q356*|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.Q356*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.Q345*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	356					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CCTCCTACCTGGATGCGAGCA	0.602000													14	37					0	0	0.003163	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801846	185801846	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:185801846G>A	ENST00000302277.6	+	4	2317	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	575						intracellular	zinc ion binding	p.E575K(1)		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						CACTCTAGATGAAAAATACAA	0.299000													24	63					0	0	0.006320	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566145	19566145	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:19566145A>G	ENST00000328041.6	+	6	766	c.569A>G	c.(568-570)aAc>aGc	p.N190S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	190						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCGGTATTCAACATCCTGTGC	0.547000													78	138					0	0	0.003610	0	0
RNF123	63891	broad.mit.edu	37	3	49753392	49753392	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:49753392C>T	ENST00000327697.6	+	33	3432	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	RNF123_ENST00000433785.1_Silent_p.F208F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1096						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGAGATATTCCTTGACTGGA	0.592000													30	58					0	0	0.002445	0	0
LTBP4	8425	broad.mit.edu	37	19	41129586	41129586	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:41129586T>C	ENST00000308370.7	+	29	3832	c.3832T>C	c.(3832-3834)Tgc>Cgc	p.C1278R	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1241R|LTBP4_ENST00000396819.3_Missense_Mutation_p.C1211R|LTBP4_ENST00000545697.1_Missense_Mutation_p.C646R	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1279	EGF-like 13; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTACTCATGCTATTGCAG	0.592000													17	29					0	0	0.006122	0	0
C1orf87	127795	broad.mit.edu	37	1	60466802	60466802	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:60466802G>A	ENST00000371201.3	-	10	1326	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	C1orf87_ENST00000450089.2_Missense_Mutation_p.P178S|C1orf87_ENST00000395552.1_Missense_Mutation_p.P41S|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	407							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCATTGGAGGGGCAGGGGCT	0.418000													10	31					0	0	0.008291	0	0
CUX1	1523	broad.mit.edu	37	7	101845438	101845438	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:101845438A>G	ENST00000360264.3	+	18	2914	c.2894A>G	c.(2893-2895)gAa>gGa	p.E965G	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.E932G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E852G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E796G|CUX1_ENST00000292535.7_Missense_Mutation_p.E954G|CUX1_ENST00000550008.2_Missense_Mutation_p.E898G	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	954					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						CAGGTTAAGGAAAAGCTGGCC	0.592000													74	37					0	0	0.003610	0	0
TOM1L2	146691	broad.mit.edu	37	17	17751084	17751084	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:17751084G>A	ENST00000581396.1	-	14	1335	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	TOM1L2_ENST00000540946.1_Silent_p.F345F|TOM1L2_ENST00000478943.1_Silent_p.F196F|TOM1L2_ENST00000379504.3_Silent_p.F463F|TOM1L2_ENST00000318094.10_Silent_p.F418F|TOM1L2_ENST00000535933.1_Silent_p.F439F|TOM1L2_ENST00000395739.4_Silent_p.F418F|TOM1L2_ENST00000542206.1_Silent_p.F344F	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	463					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTTCTTCAAGGAATTTATCAA	0.582000													35	45					0	0	0.006999	0	0
DENND1C	79958	broad.mit.edu	37	19	6475321	6475321	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6475321G>A	ENST00000381480.2	-	14	1129	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	DENND1C_ENST00000543576.1_Silent_p.L295L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	339	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACCCCCCGAAGAGCAGGGCCT	0.652000													8	17					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13811790	13811790	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13811790C>T	ENST00000265104.4	-	44	7477	c.7373G>A	c.(7372-7374)aGc>aAc	p.S2458N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2458					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATGTTAATGCTCTGTGTGAT	0.443000									Kartagener syndrome				26	40					0	0	0.009535	0	0
HHLA2	11148	broad.mit.edu	37	3	108076803	108076803	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:108076803G>A	ENST00000357759.5	+	6	1212	c.798G>A	c.(796-798)ggG>ggA	p.G266G	HHLA2_ENST00000467761.1_Silent_p.G266G|HHLA2_ENST00000489514.2_Silent_p.G266G|HHLA2_ENST00000467562.1_Silent_p.G202G|HHLA2_ENST00000491820.1_Silent_p.G266G	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	266	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGAAAAGTGGGACTTTCTCTG	0.383000													58	106					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55912930	55912930	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:55912930C>T	ENST00000373965.2	-	15	2129	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E572K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E572K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E572K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E572K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E572K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E572K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E579K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E550K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E183K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E550K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E572K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E535K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E577K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	572	Cadherin 5.				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)				ACTATCATTTCCACCCCTGGA	0.478000										HNSCC(58;0.16)			24	35					0	0	0.003330	0	0
GFM2	84340	broad.mit.edu	37	5	74046476	74046476	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:74046476G>A	ENST00000296805.3	-	7	904	c.447C>T	c.(445-447)acC>acT	p.T149T	GFM2_ENST00000345239.2_Silent_p.T149T|GFM2_ENST00000509430.1_Silent_p.T149T|GFM2_ENST00000427854.2_Silent_p.T149T	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	149					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAACCTCCAAGGTAAAGTCCA	0.423000													25	47					0	0	0.008361	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:100774643C>T	ENST00000323346.5	+	2	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S89F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000													61	60					0	0	0.003610	0	0
CCBE1	147372	broad.mit.edu	37	18	57103257	57103257	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:57103257G>A	ENST00000439986.4	-	11	1141	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	CCBE1_ENST00000398179.2_Silent_p.F97F	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	368					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGGTAAAGGGAACTCCTCTG	0.532000													46	83					0	0	0.009718	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	rs142863825		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				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)				TCTTCGAGTTCGTTTCCTAAT	0.393000													32	82					0	0	0.004289	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724061	7724061	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:7724061C>T	ENST00000303635.7	+	9	1661	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P485L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACTTTGACCCCGACTGTTTC	0.602000			T	WWTR1	epitheliod hemangioendothelioma								34	63					0	0	0.004289	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718666	1718666	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:1718666G>A	ENST00000382160.1	+	1	242	c.191G>A	c.(190-192)gGg>gAg	p.G64E		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	64	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTCTTGTGGGGGCTCCAAA	0.642000													56	105					0	0	0.003610	0	0
CCDC87	55231	broad.mit.edu	37	11	66359372	66359372	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:66359372G>A	ENST00000333861.3	-	1	1182	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	372										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTCCAGTGGTGGGTAGCGAGT	0.577000													13	59					0	0	0.004007	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742415	3742415	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:3742415C>T	ENST00000315677.3	-	6	1865	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	DLGAP1_ENST00000539435.1_Missense_Mutation_p.D122N|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D122N|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D424N|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D122N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D424N|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D130N|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D132N|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D130N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D424N|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D136N|DLGAP1_ENST00000478161.1_5'UTR	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	424					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTGCAGGGTCCAGGCTGTCC	0.567000													6	25					0	0	0.001168	0	0
ITLN1	55600	broad.mit.edu	37	1	160853271	160853271	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160853271G>A	ENST00000326245.3	-	3	219	c.104C>T	c.(103-105)cCa>cTa	p.P35L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	35	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGCAGAGATGGAGACGAAGA	0.443000													19	41					0	0	0.001882	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274135	18274135	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:18274135G>T	ENST00000593731.1	+	11	1913	c.1353G>T	c.(1351-1353)caG>caT	p.Q451H	PIK3R2_ENST00000222254.7_Missense_Mutation_p.Q451H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	451					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TCTATCACCAGCAGTACCAGG	0.567000													18	37					1.02788e-11	1.18782e-11	0.004990	1	0
CNTN4	152330	broad.mit.edu	37	3	2928802	2928802	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:2928802A>G	ENST00000397461.1	+	9	1218	c.834A>G	c.(832-834)ggA>ggG	p.G278G	CNTN4_ENST00000358480.3_Silent_p.G59G|CNTN4_ENST00000427331.1_Silent_p.G278G|CNTN4_ENST00000418658.1_Silent_p.G278G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	278	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGTCAAATGGAATTCTTGAGA	0.408000													16	25					0	0	0.004990	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307587	39307587	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:39307587C>T	ENST00000541347.1	-	2	653	c.414G>A	c.(412-414)atG>atA	p.M138I	CX3CR1_ENST00000358309.3_Missense_Mutation_p.M170I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.M138I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.M138I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	138					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCCGGTTGTTCATGGAGTTGG	0.537000													29	67					0	0	0.002445	0	0
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:10443353C>T	ENST00000245503.5	-	12	1423	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	MYH2_ENST00000397183.2_Missense_Mutation_p.E347K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E347K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	347	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E347K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTTCTTCATTAGTAAAG	0.423000													16	71					0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152420119	152420119	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:152420119C>T	ENST00000427231.2	-	119	18896		c.e119+1		NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000409198.1_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTTACTTACCGCACTCCTC	0.468000													12	231					0	0	0.001855	0	0
FLNA	2316	broad.mit.edu	37	X	153577876	153577876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:153577876G>A	ENST00000422373.1	-	46	7834	c.7586C>T	c.(7585-7587)tCt>tTt	p.S2529F	FLNA_ENST00000369856.3_Missense_Mutation_p.S670F|FLNA_ENST00000360319.4_Missense_Mutation_p.S2529F|FLNA_ENST00000344736.4_Missense_Mutation_p.S2497F|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Missense_Mutation_p.S2537F	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2537	Hinge 2.|Self-association site, tail.				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)					CTTGGTCAGAGAGTCTACAAA	0.662000													27	29					0	0	0.007291	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28555609	28555609	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:28555609A>G	ENST00000383768.2	+	7	900	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K238E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	238							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TAGAAAAAGGAAAAGGTATGC	0.259000													5	7					0	0	0.000602	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6974614	6974614	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6974614C>T	ENST00000600751.1	-	0	768					NR_024075.1																						CATCCCTTTTCGTTTACTAAA	0.403000													11	23					0	0	0.001368	0	0
ALMS1	7840	broad.mit.edu	37	2	73679862	73679862	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:73679862G>A	ENST00000264448.6	+	8	6316	c.6205G>A	c.(6205-6207)Ggt>Agt	p.G2069S	ALMS1_ENST00000409009.1_Missense_Mutation_p.G2027S|ALMS1_ENST00000377715.1_Missense_Mutation_p.G2069S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2069	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAAGTAAAGGTATTCTAAA	0.363000													11	40					0	0	0.000978	0	0
PXDNL	137902	broad.mit.edu	37	8	52321489	52321489	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:52321489C>T	ENST00000356297.4	-	17	2795	c.2695G>A	c.(2695-2697)Gtt>Att	p.V899I	PXDNL_ENST00000543296.1_Missense_Mutation_p.V899I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	899					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCCCGTAAACGTTGGAGCCA	0.622000													17	50					0	0	0.008871	0	0
MRPL1	65008	broad.mit.edu	37	4	78804427	78804427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:78804427G>A	ENST00000315567.8	+	3	504	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	59							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AGGTGCTAAAGAAAAAACACC	0.279000													6	7					0	0	0.001168	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073507	74073507	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:74073507G>A	ENST00000370367.3	+	3	631	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GGGACCCAGCGATCCCCCGAA	0.642000													19	34					0	0	0.008871	0	0
MUC3A	4584	broad.mit.edu	37	7	100551597	100551597	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100551597C>T	ENST00000319509.7	+	1	348	c.348C>T	c.(346-348)atC>atT	p.I116I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACACCCCAATCAGTTCCTTTA	0.502000													20	399					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38835385	38835385	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38835385C>T	ENST00000449082.2	-	1	116	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	39					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCTATGCTTCTCTCTGGCTT	0.532000													37	88					0	0	0.004878	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930193	45930193	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:45930193G>A	ENST00000275525.3	+	2	692	c.396G>A	c.(394-396)gaG>gaA	p.E132E	IGFBP1_ENST00000457280.1_Silent_p.E132E|IGFBP1_ENST00000468955.1_Silent_p.E132E	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	132						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TAACTGAGGAGGAGCTCCTGG	0.537000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	57					0	0	0.004878	0	0
COL4A4	1286	broad.mit.edu	37	2	227915856	227915856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:227915856C>T	ENST00000396625.3	-	33	3194	c.2987G>A	c.(2986-2988)gGg>gAg	p.G996E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G996E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	996	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTTGCATCCCGGGAGTTCC	0.522000													39	62					0	0	0.002852	0	0
FAT2	2196	broad.mit.edu	37	5	150930330	150930330	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:150930330G>A	ENST00000261800.5	-	7	4411	c.4399C>T	c.(4399-4401)Ctc>Ttc	p.L1467F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1467	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCGCAGGAGCTCTACCCCT	0.532000													8	31					0	0	0.004482	0	0
CBFA2T3	863	broad.mit.edu	37	16	88947895	88947895	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:88947895G>A	ENST00000268679.4	-	9	1602	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.L364L|CBFA2T3_ENST00000360302.2_Silent_p.L316L|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.L326L|CBFA2T3_ENST00000327483.5_Silent_p.L316L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	402	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCAGTTCAGGAGCTGGGGGC	0.701000			T	RUNX1	AML								12	10					0	0	0.001855	0	0
SCN10A	6336	broad.mit.edu	37	3	38770144	38770144	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:38770144G>A	ENST00000449082.2	-	15	2528	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	843					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAGGATACGGAAGACAATGA	0.502000													10	35					0	0	0.008291	0	0
DPY19L3	147991	broad.mit.edu	37	19	32927424	32927424	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:32927424T>G	ENST00000342179.5	+	5	616	c.401T>G	c.(400-402)aTt>aGt	p.I134S	DPY19L3_ENST00000392250.2_Missense_Mutation_p.I134S|DPY19L3_ENST00000586987.1_Missense_Mutation_p.I134S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	134						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CGAATGAATATTTACCAAGAG	0.303000													39	79					0	0	0.006230	0	0
ASXL3	80816	broad.mit.edu	37	18	31325250	31325250	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:31325250G>A	ENST00000269197.5	+	12	5438	c.5438G>A	c.(5437-5439)gGg>gAg	p.G1813E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1813					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						TACTTGGCAGGGACTCTGGCA	0.478000													23	113					0	0	0.003330	0	0
RYR1	6261	broad.mit.edu	37	19	39034477	39034477	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39034477C>T	ENST00000355481.4	+	86	12090	c.11959C>T	c.(11959-11961)Ctg>Ttg	p.L3987L	RYR1_ENST00000360985.3_Silent_p.L3987L|RYR1_ENST00000359596.3_Silent_p.L3992L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3992					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L3992M(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGGGATTCCTGCACGTGTT	0.642000													9	20					0	0	0.008291	0	0
NUP205	23165	broad.mit.edu	37	7	135289098	135289098	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:135289098C>T	ENST00000285968.6	+	19	2739	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	905					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATACCTATATCATGGCAATAC	0.338000													31	20					0	0	0.009535	0	0
TRIM2	23321	broad.mit.edu	37	4	154191564	154191564	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:154191564A>G	ENST00000338700.5	+	2	173	c.108A>G	c.(106-108)ccA>ccG	p.P36P	TRIM2_ENST00000437508.2_Silent_p.P9P|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	9						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCAACATCCCAAGTCCTGTGG	0.522000													26	59					0	0	0.003330	0	0
RP1L1	94137	broad.mit.edu	37	8	10465331	10465331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10465331C>T	ENST00000382483.3	-	4	6500	c.6277G>A	c.(6277-6279)Gag>Aag	p.E2093K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2093					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCTGGGCCTCCCCTTCTGCC	0.627000													54	126					0	0	0.003610	0	0
FAM217A	222826	broad.mit.edu	37	6	4069555	4069555	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:4069555A>C	ENST00000274673.3	-	7	1305	c.902T>G	c.(901-903)aTt>aGt	p.I301S	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	301																	CTCTTTTTGAATAGTCATATG	0.418000													23	53					0	0	0.003330	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443494	74443494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:74443494C>T	ENST00000339953.5	-	12	1405	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	428	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGGTCGTTCCAGTTGAAGG	0.597000													12	57					0	0	0.008871	0	0
HSPA6	3310	broad.mit.edu	37	1	161496303	161496303	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:161496303C>T	ENST00000309758.4	+	1	2268	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	619					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCTGGTGTCCCTGGGGGCAG	0.602000													5	24					0	0	0.001984	0	0
FGF7	2252	broad.mit.edu	37	15	49775396	49775396	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49775396G>A	ENST00000267843.4	+	3	946	c.335G>A	c.(334-336)gGg>gAg	p.G112E	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	112					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GCAATCAAAGGGGTGGAAAGT	0.353000													13	19					0	0	0.004007	0	0
DNAH7	56171	broad.mit.edu	37	2	196664178	196664178	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:196664178C>T	ENST00000312428.6	-	55	10295	c.10195G>A	c.(10195-10197)Gaa>Aaa	p.E3399K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3399	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTATAAATTCCTGCAACATT	0.363000													42	78					0	0	0.003610	0	0
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	627					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)		TCCAGAGACAGAGCTGCTAGT	0.542000													18	58					0	0	0.007413	0	0
FAM227B	196951	broad.mit.edu	37	15	49867220	49867220	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:49867220G>A	ENST00000299338.6	-	8	936	c.633C>T	c.(631-633)ctC>ctT	p.L211L	FAM227B_ENST00000561064.1_Silent_p.L211L	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TAAATTTATGGAGAAACCACC	0.289000													5	34					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179606491	179606491	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179606491G>A	ENST00000589042.1	-	48	11693	c.11469C>T	c.(11467-11469)atC>atT	p.I3823I	TTN_ENST00000359218.5_Silent_p.I3585I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Silent_p.I3460I|TTN_ENST00000342175.6_Silent_p.I3652I|TTN_ENST00000591111.1_Silent_p.I3506I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3506							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)			ACACTTCTTTGATGAAAATTG	0.373000													12	39					0	0	0.001855	0	0
ANXA6	309	broad.mit.edu	37	5	150501799	150501799	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:150501799G>A	ENST00000354546.5	-	17	1483	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	ANXA6_ENST00000377751.5_Missense_Mutation_p.S76F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S212F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S419F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S387F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	419						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGATCTCAGACTTCAGGTC	0.532000													6	12					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13735385	13735385	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13735385G>A	ENST00000265104.4	-	68	11720	c.11616C>T	c.(11614-11616)atC>atT	p.I3872I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3872					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGTGCTCGATGATATTAG	0.443000									Kartagener syndrome				7	25					0	0	0.003080	0	0
FBXO40	51725	broad.mit.edu	37	3	121340805	121340805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:121340805G>A	ENST00000338040.4	+	3	943	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	177					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGGTGGAGTGGATATCGGTTT	0.498000													13	39					0	0	0.001855	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447334	22447334	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:22447334G>A	ENST00000390443.3	+	0	535																											TAAGCGACACGGCTGAGTACT	0.478000													20	26					0	0	0.010504	0	0
STAG3	10734	broad.mit.edu	37	7	99798112	99798112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:99798112C>T	ENST00000426455.1	+	18	2214	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Nonsense_Mutation_p.Q545*|STAG3_ENST00000317296.5_Nonsense_Mutation_p.Q603*			Q9UJ98	STAG3_HUMAN	stromal antigen 3	603					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCTGCTCCAGCTTCTCAG	0.537000													45	20					0	0	0.003610	0	0
PRDM14	63978	broad.mit.edu	37	8	70981499	70981499	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:70981499C>T	ENST00000276594.2	-	2	798	c.597G>A	c.(595-597)gaG>gaA	p.E199E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCAGGTCCTCCTCCGTGAACT	0.602000													20	49					0	0	0.010504	0	0
ZAN	7455	broad.mit.edu	37	7	100373429	100373429	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:100373429G>A	ENST00000542585.1	+	0	6311				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTAGAGATTGAAATCCCCAC	0.537000													34	18					0	0	0.003271	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472375	47472375	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:47472375G>A	ENST00000266581.4	-	2	877	c.411C>T	c.(409-411)ttC>ttT	p.F137F	AMIGO2_ENST00000550413.1_Silent_p.F137F|AMIGO2_ENST00000429635.1_Silent_p.F137F|AMIGO2_ENST00000321382.3_Silent_p.F137F	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	137					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCAACTCTTGGAATACAGCAT	0.438000													19	55					0	0	0.007413	0	0
ERP44	23071	broad.mit.edu	37	9	102744907	102744907	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:102744907C>T	ENST00000262455.6	-	12	1407	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	403					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AAGCTCATCTCGATCCCTCAA	0.393000													12	18					0	0	0.001368	0	0
MIB2	142678	broad.mit.edu	37	1	1559297	1559297	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:1559297G>A	ENST00000357210.4	+	4	781	c.565G>A	c.(565-567)Gac>Aac	p.D189N	MIB2_ENST00000360522.4_Missense_Mutation_p.D189N|MIB2_ENST00000518681.1_Missense_Mutation_p.D246N|MIB2_ENST00000520777.1_Missense_Mutation_p.D246N|MIB2_ENST00000378710.3_Missense_Mutation_p.D189N|MIB2_ENST00000504599.1_Missense_Mutation_p.D145N|MIB2_ENST00000378708.1_Missense_Mutation_p.D131N|MIB2_ENST00000378712.1_Missense_Mutation_p.D131N|MIB2_ENST00000505820.2_Missense_Mutation_p.D246N|MIB2_ENST00000355826.5_Missense_Mutation_p.D232N|MIB2_ENST00000512004.1_3'UTR	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	189					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCACGCCTTCGACCGCTACGA	0.692000													9	22					0	0	0.008291	0	0
ATG2B	55102	broad.mit.edu	37	14	96790257	96790257	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:96790257G>A	ENST00000359933.4	-	16	3409	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	839										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCATCTGACGATGTTGTATC	0.343000													17	39					0	0	0.010504	0	0
CILP2	148113	broad.mit.edu	37	19	19655734	19655734	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:19655734C>T	ENST00000586018.1	+	8	2500	c.2398C>T	c.(2398-2400)Ccc>Tcc	p.P800S	CILP2_ENST00000291495.4_Missense_Mutation_p.P794S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	794						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCTGCCTCCCCGCCTTCTG	0.746000													3	16					0	0	0.009096	0	0
LAMB1	3912	broad.mit.edu	37	7	107603371	107603371	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:107603371G>A	ENST00000393561.1	-	13	2092	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	LAMB1_ENST00000393560.1_Silent_p.I612I|LAMB1_ENST00000222399.6_Silent_p.I612I			P07942	LAMB1_HUMAN	laminin, beta 1	612	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGAATTAGGATGTCGTACT	0.468000													118	42					0	0	0.003610	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636920	18636920	+	Missense_Mutation	SNP	G	G	A	rs138155181	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18636920G>A	ENST00000336349.5	-	3	1136	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	301	Ser-rich.							p.R301C(3)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCCCTCACGAAGTGAGGGT	0.507000													31	97					0	0	0.009535	0	0
MON1B	22879	broad.mit.edu	37	16	77228850	77228850	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:77228850C>T	ENST00000248248.3	+	4	1444	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	MON1B_ENST00000439557.2_Missense_Mutation_p.A256V|MON1B_ENST00000545553.1_Missense_Mutation_p.A219V|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	365							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCATGGCCGCCTGCCGGCGC	0.612000													8	21					0	0	0.003080	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373328	62373328	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:62373328C>T	ENST00000266077.2	+	4	550	c.498C>T	c.(496-498)tcC>tcT	p.S166S	SLC2A4RG_ENST00000493772.1_Intron	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	166						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGACCAGTCCTCTCCGTCCA	0.677000													14	29					0	0	0.004007	0	0
ABCA12	26154	broad.mit.edu	37	2	215914410	215914410	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:215914410G>A	ENST00000272895.7	-	6	852	c.633C>T	c.(631-633)tgC>tgT	p.C211C		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	211					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTAGAAAGGCAAAATTTGT	0.378000													21	29					0	0	0.001882	0	0
LRRTM2	26045	broad.mit.edu	37	5	138208914	138208914	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:138208914T>C	ENST00000274711.6	-	2	1714	c.1336A>G	c.(1336-1338)Aag>Gag	p.K446E	LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Missense_Mutation_p.K7E|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	446						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGGCAGCACTTCCTGGAGATG	0.423000													23	70					0	0	0.002299	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563540	45563540	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:45563540G>A	ENST00000379161.4	-	1	78	c.32C>T	c.(31-33)cCt>cTt	p.P11L	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	11					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CCACCCGATAGGAGTCTCGAA	0.622000													7	25					0	0	0.003080	0	0
CDPF1	150383	broad.mit.edu	37	22	46644127	46644127	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:46644127T>C	ENST00000314567.3	-	2	478	c.55A>G	c.(55-57)Acc>Gcc	p.T19A	CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Missense_Mutation_p.T19A|CDPF1_ENST00000404744.1_Missense_Mutation_p.T19A	NM_207327.4	NP_997210.3			cysteine-rich, DPF motif domain containing 1																		GCTGTCAAGGTACAGAGTTCA	0.577000													7	16					0	0	0.004482	0	0
ZNF829	374899	broad.mit.edu	37	19	37382511	37382511	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37382511A>C	ENST00000520965.1	-	6	1491	c.1425T>G	c.(1423-1425)aaT>aaG	p.N475K	ZNF829_ENST00000391711.3_Missense_Mutation_p.N394K|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCGAGTAAGATTTGAGCCTT	0.403000													20	24					0	0	0.002780	0	0
FEM1A	55527	broad.mit.edu	37	19	4793084	4793084	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:4793084C>T	ENST00000269856.3	+	1	1357	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	406					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.F406F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCAATTTCGAGCGCTGCA	0.622000													29	55					0	0	0.008361	0	0
SPATA12	353324	broad.mit.edu	37	3	57107844	57107844	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:57107844C>G	ENST00000334325.1	+	2	797	c.122C>G	c.(121-123)aCc>aGc	p.T41S	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	41										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GGGTCATCCACCCAACATCCC	0.577000													24	50					0	0	0.003330	0	0
EMR1	2015	broad.mit.edu	37	19	6924812	6924812	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6924812C>T	ENST00000312053.4	+	15	1952	c.1915C>T	c.(1915-1917)Ctg>Ttg	p.L639L	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.L587L|EMR1_ENST00000381407.5_Silent_p.L498L|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)					CTACCTCCACCTGCACCTCTG	0.552000													19	40					0	0	0.008871	0	0
FANCI	55215	broad.mit.edu	37	15	89843548	89843548	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:89843548G>A	ENST00000310775.7	+	26	2907	c.2821G>A	c.(2821-2823)Gga>Aga	p.G941R	FANCI_ENST00000300027.8_Missense_Mutation_p.G881R	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	941					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)					AGATAAGGAAGGAGAAGAGAG	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				31	35					0	0	0.003271	0	0
GAD1	2571	broad.mit.edu	37	2	171705805	171705805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:171705805G>A	ENST00000358196.3	+	12	1679	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	377					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCTGCCTGGGGAGGTGGGCT	0.522000													10	47					0	0	0.008291	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639580	94639580	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:94639580T>C	ENST00000260526.6	-	23	3813	c.3631A>G	c.(3631-3633)Aaa>Gaa	p.K1211E		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1211					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GCTGATGCTTTGTCTGGGTCT	0.547000													13	25					0	0	0.001855	0	0
WDR49	151790	broad.mit.edu	37	3	167196684	167196684	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:167196684C>T	ENST00000308378.3	-	15	2381	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V	WDR49_ENST00000476376.1_Silent_p.V517V|WDR49_ENST00000479765.1_3'UTR|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000453925.2_Silent_p.V657V	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	692										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATTTTTCTTCACTTCACAAC	0.318000													18	27					0	0	0.004990	0	0
FAM160B1	57700	broad.mit.edu	37	10	116602693	116602693	+	Splice_Site	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:116602693A>T	ENST00000369248.4	+	6	859	c.522_splice	c.e6-1	p.N175_splice	FAM160B1_ENST00000369250.3_Splice_Site_p.N175_splice	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	175										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTTTCAGAATAAGATGAAA	0.308000													8	7					0	0	0.003080	0	0
EPHA7	2045	broad.mit.edu	37	6	94066578	94066578	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:94066578C>T	ENST00000369303.4	-	5	1365	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	394	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCTCTAATCCAGTCTGCTG	0.463000													20	51					0	0	0.002299	0	0
TMEM145	284339	broad.mit.edu	37	19	42818443	42818443	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42818443G>A	ENST00000598766.1	+	2	140	c.140G>A	c.(139-141)aGa>aAa	p.R47K	TMEM145_ENST00000301204.3_Missense_Mutation_p.R47K|TMEM145_ENST00000601020.1_3'UTR			Q8NBT3	TM145_HUMAN	transmembrane protein 145	47						integral to membrane		p.R47K(1)		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)				TTCCTGACAAGATTTTGTTTC	0.542000													50	96					0	0	0.003610	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485190	97485190	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:97485190C>T	ENST00000376705.2	+	2	1178	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	385						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ACGCGGGCTTCTAACGTGGAG	0.502000													23	52					0	0	0.003954	0	0
ATL3	25923	broad.mit.edu	37	11	63398562	63398562	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:63398562G>A	ENST00000398868.3	-	12	1765	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	ATL3_ENST00000332645.4_Missense_Mutation_p.R524C|ATL3_ENST00000538786.1_Missense_Mutation_p.R479C	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	497					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCCAGCTCACGATATTGACCA	0.483000													19	37					0	0	0.010504	0	0
ITGA4	3676	broad.mit.edu	37	2	182396465	182396465	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:182396465C>T	ENST00000397033.2	+	25	3176	c.2746C>T	c.(2746-2748)Cat>Tat	p.H916Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	916					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGCCAGTGTTCATATCCAACT	0.343000													45	97					0	0	0.003610	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709855	128709855	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:128709855G>A	ENST00000392665.2	-	2	428	c.284C>T	c.(283-285)cCt>cTt	p.P95L	KCNJ1_ENST00000392666.1_Missense_Mutation_p.P95L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.P95L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.P114L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.P95L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	114					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTGGCAGAAGGATGGAATTC	0.453000													16	39					0	0	0.003163	0	0
CPEB4	80315	broad.mit.edu	37	5	173337594	173337594	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:173337594T>G	ENST00000265085.5	+	2	2648	c.1194T>G	c.(1192-1194)aaT>aaG	p.N398K	CPEB4_ENST00000517880.1_Missense_Mutation_p.N16K|CPEB4_ENST00000334035.5_Missense_Mutation_p.N398K|CPEB4_ENST00000519835.1_Missense_Mutation_p.N398K|CPEB4_ENST00000520867.1_Missense_Mutation_p.N398K|CPEB4_ENST00000522336.1_Missense_Mutation_p.N16K	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	398							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCTGAAAATGATACCATTA	0.353000													28	65					0	0	0.005443	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635487	122635487	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:122635487A>C	ENST00000249284.2	-	1	267	c.202T>G	c.(202-204)Ttt>Gtt	p.F68V		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	68					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGGAGCAAAAATTGTTCAGC	0.403000													18	70					0	0	0.008871	0	0
INTS4P2	644619	broad.mit.edu	37	7	65150682	65150682	+	RNA	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:65150682G>A	ENST00000430126.2	+	0	663																											TGAAATTGAGGAAGTACGTCT	0.483000													8	5					0	0	0.004482	0	0
DSP	1832	broad.mit.edu	37	6	7586062	7586062	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:7586062C>G	ENST00000379802.3	+	24	8908	c.8567C>G	c.(8566-8568)tCt>tGt	p.S2856C	DSP_ENST00000418664.2_Missense_Mutation_p.S2257C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2856	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAGGGAATTCTTCCTACTCT	0.542000													44	127					0	0	0.003610	0	0
CAPN1	823	broad.mit.edu	37	11	64972273	64972273	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:64972273C>T	ENST00000527323.1	+	10	1525	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	CAPN1_ENST00000279247.6_Missense_Mutation_p.R429C|CAPN1_ENST00000533129.1_Missense_Mutation_p.R429C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R429C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R429C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	429	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GAAGCACCGTCGCCGCGAGCG	0.632000											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44					0	0	0.003080	0	0
NAT2	10	broad.mit.edu	37	8	18257721	18257721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:18257721C>T	ENST00000286479.3	+	2	315	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	70					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GTGGTGTCTCCAGGTCAATCA	0.453000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				34	97					0	0	0.004289	0	0
OR7C2	26658	broad.mit.edu	37	19	15053167	15053167	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:15053167C>T	ENST00000248072.3	+	1	867	c.867C>T	c.(865-867)taC>taT	p.Y289Y		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CCTTCATCTACAGCCTGAGGA	0.537000													26	74					0	0	0.003954	0	0
FAM150B	285016	broad.mit.edu	37	2	283168	283168	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:283168T>G	ENST00000403610.4	-	5	736	c.396A>C	c.(394-396)aaA>aaC	p.K132N	FAM150B_ENST00000344414.5_Missense_Mutation_p.K40N|FAM150B_ENST00000401503.1_Missense_Mutation_p.K40N|FAM150B_ENST00000405290.1_Missense_Mutation_p.K40N	NM_001002919.2	NP_001002919.2	Q6UX46	F150B_HUMAN	family with sequence similarity 150, member B	132						extracellular region				breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		TGGCGCATCTTTTATAGTCTA	0.408000													6	27					0	0	0.003080	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598182	46598182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:46598182G>A	ENST00000398637.5	-	11	1418	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.Q242*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	242					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGGGAATTTGAAATTTCTTG	0.323000													40	102					0	0	0.006230	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955550	18955550	+	Missense_Mutation	SNP	G	G	A	rs150108666		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18955550G>A	ENST00000302797.3	-	1	1006	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	261					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTAAGAGCGGACAGGAAAAT	0.463000													14	43					0	0	0.004007	0	0
MEIS2	4212	broad.mit.edu	37	15	37387790	37387790	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:37387790G>A	ENST00000338564.5	-	5	859	c.413C>T	c.(412-414)tCc>tTc	p.S138F	MEIS2_ENST00000382766.2_Missense_Mutation_p.S138F|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.S125F|MEIS2_ENST00000561208.1_Missense_Mutation_p.S138F|MEIS2_ENST00000559085.1_Missense_Mutation_p.S125F|MEIS2_ENST00000559561.1_Missense_Mutation_p.S138F|MEIS2_ENST00000557796.2_Missense_Mutation_p.S125F|MEIS2_ENST00000444725.1_Missense_Mutation_p.S138F|MEIS2_ENST00000424352.2_Missense_Mutation_p.S138F|MEIS2_ENST00000397624.3_Missense_Mutation_p.S50F|MEIS2_ENST00000397620.2_Missense_Mutation_p.S50F	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	138					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGATTTGAGGAAAAAAGTGG	0.468000													10	33					0	0	0.000978	0	0
DPP4	1803	broad.mit.edu	37	2	162875760	162875760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:162875760C>T	ENST00000360534.3	-	15	1831	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	424					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCCTGGCATTCCTTTATATTC	0.318000													16	58					0	0	0.004007	0	0
TOP3B	8940	broad.mit.edu	37	22	22316831	22316831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:22316831G>A	ENST00000398793.2	-	13	1929	c.1495C>T	c.(1495-1497)Ctc>Ttc	p.L499F	TOP3B_ENST00000413067.2_Missense_Mutation_p.L228F|TOP3B_ENST00000357179.5_Missense_Mutation_p.L499F	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	499					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCGTGATGAGCTCGGCCTCC	0.632000													41	80					0	0	0.002852	0	0
OR4A47	403253	broad.mit.edu	37	11	48510356	48510356	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:48510356G>A	ENST00000446524.1	+	1	88	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGCCAAGGAAAAATGTGA	0.363000													7	11					0	0	0.004482	0	0
KIAA1841	84542	broad.mit.edu	37	2	61308628	61308628	+	Silent	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:61308628T>C	ENST00000402291.1	+	7	953	c.712T>C	c.(712-714)Tta>Cta	p.L238L	KIAA1841_ENST00000356719.2_Silent_p.L238L|KIAA1841_ENST00000295031.5_Silent_p.L238L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.L238L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	238										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTCGGAGTTTTTAAAAATGGA	0.308000													33	75					0	0	0.003755	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358809	21358809	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:21358809C>T	ENST00000256958.2	+	11	1435	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	447					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAGAAATAATCCAGTGACATC	0.368000													14	47					0	0	0.002450	0	0
MFSD12	126321	broad.mit.edu	37	19	3547919	3547919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:3547919G>A	ENST00000355415.2	-	4	933	c.764C>T	c.(763-765)cCc>cTc	p.P255L	MFSD12_ENST00000398558.4_Missense_Mutation_p.P255L|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.P255L|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	255					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCCAACAGGGGGGTGTGCTC	0.716000													8	4					0	0	0.004482	0	0
TPGS2	25941	broad.mit.edu	37	18	34398865	34398865	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:34398865A>G	ENST00000334295.4	-	2	584	c.157T>C	c.(157-159)Tgg>Cgg	p.W53R	TPGS2_ENST00000590842.1_Missense_Mutation_p.W53R|TPGS2_ENST00000383056.3_Missense_Mutation_p.W53R|TPGS2_ENST00000587129.1_Missense_Mutation_p.W53R|TPGS2_ENST00000589049.1_Missense_Mutation_p.W53R|TPGS2_ENST00000593035.1_Missense_Mutation_p.W53R	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	53						cytoplasm|microtubule											ACTTGTTCCCAGGAAGAAATC	0.433000													38	77					0	0	0.002852	0	0
OR2A14	135941	broad.mit.edu	37	7	143826740	143826740	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:143826740G>A	ENST00000408899.2	+	1	590	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTCTTCTGTGAAATCCTGTC	0.562000													215	214					0	0	0.003610	0	0
ZNF529	57711	broad.mit.edu	37	19	37038114	37038114	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:37038114G>A	ENST00000334116.7	-	6	1641	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	ZNF529_ENST00000591340.1_Missense_Mutation_p.P449L	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACATTCATAAGGTTTTTGACC	0.358000													30	45					0	0	0.002445	0	0
ZNF773	374928	broad.mit.edu	37	19	58016719	58016719	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58016719G>A	ENST00000599847.1	+	3	355	c.213G>A	c.(211-213)gaG>gaA	p.E71E	ZNF773_ENST00000282292.4_Silent_p.E71E|ZNF773_ENST00000598770.1_Silent_p.E70E|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Silent_p.E70E			Q6PK81	ZN773_HUMAN	zinc finger protein 773	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGTCATGGGAGGAGCCCTTCA	0.512000													23	59					0	0	0.002836	0	0
LSR	51599	broad.mit.edu	37	19	35741242	35741242	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:35741242C>T	ENST00000602122.1	+	2	765	c.278C>T	c.(277-279)aCc>aTc	p.T93I	LSR_ENST00000361790.3_Missense_Mutation_p.T93I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000347609.4_Missense_Mutation_p.T56I|LSR_ENST00000427250.1_Missense_Mutation_p.T45I|LSR_ENST00000354900.3_Missense_Mutation_p.T93I|LSR_ENST00000360798.3_Missense_Mutation_p.T93I			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	93	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCAGGTGACCGTGTCCAAC	0.612000													73	225					0	0	0.003610	0	0
SHPRH	257218	broad.mit.edu	37	6	146243875	146243875	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:146243875C>T	ENST00000367503.3	-	19	4053	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E1215K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1219K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1215K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1215					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGAGGTCCCTCCAGGTTTTTT	0.438000													13	45					0	0	0.001368	0	0
ZNF274	10782	broad.mit.edu	37	19	58721332	58721332	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:58721332C>T	ENST00000326804.4	+	7	1201	c.742C>T	c.(742-744)Cct>Tct	p.P248S	ZNF274_ENST00000424679.2_Missense_Mutation_p.P143S|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.P216S	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	249					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCCAGTACTTCCTGCAGGACA	0.647000													10	18					0	0	0.000978	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459599	122459599	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:122459599T>C	ENST00000306103.2	-	8	1203	c.1060A>G	c.(1060-1062)Atg>Gtg	p.M354V	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	354						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCCTTTTTCATGTGCTCTCCA	0.458000													62	127					0	0	0.003610	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542082	133542082	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:133542082G>A	ENST00000409261.1	-	14	2675	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P768S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	768							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCTGCTGAGGATTTTGTGTC	0.433000													29	59					0	0	0.002096	0	0
NLRP8	126205	broad.mit.edu	37	19	56465912	56465912	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56465912C>T	ENST00000291971.3	+	3	559	c.488C>T	c.(487-489)cCc>cTc	p.P163L	NLRP8_ENST00000590542.1_Missense_Mutation_p.P163L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	163						cytoplasm	ATP binding	p.P163H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGTTTTTCCCCATATGGGAC	0.438000													22	62					0	0	0.010504	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222291	100222291	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:100222291G>A	ENST00000231461.5	-	3	569	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R87C|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	87					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTAAGAAACGAAGTATGTTC	0.388000													26	36					0	0	0.003330	0	0
VWF	7450	broad.mit.edu	37	12	6220133	6220133	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:6220133C>T	ENST00000261405.5	-	4	476	c.220_splice	c.e4-1	p.G74_splice	VWF_ENST00000572068.1_Splice_Site_p.G111_splice	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	74	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGGAAGTCCCCTGAAAGAG	0.388000													23	62					0	0	0.002299	0	0
PFKL	5211	broad.mit.edu	37	21	45741700	45741700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45741700C>T	ENST00000403390.1	+	14	1421	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	PFKL_ENST00000349048.4_Missense_Mutation_p.S427F			P17858	K6PL_HUMAN	phosphofructokinase, liver	427					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACCGGCATCTCCCATGGACAC	0.627000													22	68					0	0	0.002299	0	0
C3	718	broad.mit.edu	37	19	6709694	6709694	+	Splice_Site	SNP	C	C	T	rs111861067		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:6709694C>T	ENST00000245907.6	-	14	1938		c.e14+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGCCCTTACCTTACTCTGC	0.627000													54	159					0	0	0.003610	0	0
TRIM10	10107	broad.mit.edu	37	6	30128443	30128443	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:30128443G>A	ENST00000449742.2	-	1	268	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	TRIM10_ENST00000376704.3_Missense_Mutation_p.R65C	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	65			R -> H (in dbSNP:rs12212092).			cytoplasm	zinc ion binding			ovary(1)	1						CTCCCAGGACGGAAGGGTTCT	0.612000													63	174					0	0	0.003610	0	0
ATP5C1	509	broad.mit.edu	37	10	7841754	7841754	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:7841754C>A	ENST00000356708.7	+	5	527	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.L150M|ATP5C1_ENST00000541227.1_Missense_Mutation_p.L103M	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	150					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGACCAGTTTCTGGTGGCATT	0.423000													23	43					1.87028e-06	2.15326e-06	0.001882	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122930761	122930761	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:122930761C>A	ENST00000395412.1	+	11	1834	c.1115C>A	c.(1114-1116)tCc>tAc	p.S372Y	CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S372Y|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.S372Y|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S372Y|CSNK1G3_ENST00000511130.2_Intron	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	372					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GCTTGGGACTCCCAGCAGGCA	0.443000													18	59					2.4624e-09	2.84024e-09	0.008871	1	0
TLL1	7092	broad.mit.edu	37	4	167012404	167012404	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:167012404C>T	ENST00000061240.2	+	19	3214	c.2567C>T	c.(2566-2568)cCc>cTc	p.P856L	TLL1_ENST00000507499.1_Missense_Mutation_p.P879L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	856	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATACCAGATCCCCTTGTGGCT	0.403000													10	30					0	0	0.008291	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597184	38597184	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:38597184C>T	ENST00000222345.6	+	7	2546	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	679	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCCGACTCCACGGGAACCC	0.512000													25	65					0	0	0.007291	0	0
EPHA4	2043	broad.mit.edu	37	2	222321436	222321436	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:222321436G>A	ENST00000281821.2	-	7	1541	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	EPHA4_ENST00000392071.4_Silent_p.I449I|EPHA4_ENST00000409938.1_Silent_p.I500I|EPHA4_ENST00000409854.1_Silent_p.I500I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	500	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAGGCCTTTGATATCTGTGT	0.478000													21	52					0	0	0.002299	0	0
DOCK4	9732	broad.mit.edu	37	7	111509675	111509675	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:111509675C>T	ENST00000428084.1	-	21	2336	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.R688R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	688					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGTGATCCGGTCCACGT	0.423000													49	20					0	0	0.003610	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716487	13716487	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:13716487C>T	ENST00000279593.3	-	13	3894	c.3685G>A	c.(3685-3687)Gtg>Atg	p.V1229M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1229					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACCCGTCACCGTCGTGGAG	0.602000													19	22					0	0	0.008871	0	0
FAM114A2	10827	broad.mit.edu	37	5	153372608	153372608	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:153372608G>A	ENST00000351797.4	-	14	1522	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	FAM114A2_ENST00000520667.1_Silent_p.I482I|FAM114A2_ENST00000522858.1_Silent_p.I482I|FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Silent_p.I412I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	482							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CAATGAGAGAGATCTCTAGCA	0.428000													23	71					0	0	0.002780	0	0
DPP10	57628	broad.mit.edu	37	2	116101408	116101408	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:116101408C>T	ENST00000410059.1	+	3	671	c.191C>T	c.(190-192)tCg>tTg	p.S64L	DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L|DPP10_ENST00000310323.8_Missense_Mutation_p.S57L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	64					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						CTCACAAATTCGTCAGAAACC	0.348000													17	54					0	0	0.008871	0	0
ILF3	3609	broad.mit.edu	37	19	10792728	10792728	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:10792728C>T	ENST00000449870.1	+	12	1557	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	ILF3_ENST00000420083.1_Missense_Mutation_p.P414S|ILF3_ENST00000318511.3_Missense_Mutation_p.P414S|ILF3_ENST00000407004.3_Missense_Mutation_p.P414S|ILF3_ENST00000589998.1_Missense_Mutation_p.P414S|ILF3_ENST00000590261.1_Missense_Mutation_p.P414S|ILF3_ENST00000588657.1_Missense_Mutation_p.P414S|ILF3_ENST00000592763.1_Missense_Mutation_p.P414S|ILF3_ENST00000250241.8_Missense_Mutation_p.P414S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	414	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAGCTGAAGCCAGGGCTGCA	0.572000													17	39					0	0	0.006122	0	0
CPT2	1376	broad.mit.edu	37	1	53679049	53679049	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:53679049C>T	ENST00000371486.3	+	5	2274	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	587					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCACAATGTCCTGTCCACGAG	0.557000													36	88					0	0	0.003271	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:26031889C>T	ENST00000244661.2	-	1	399	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458000													26	48					0	0	0.005443	0	0
LAMA1	284217	broad.mit.edu	37	18	7042163	7042163	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:7042163G>A	ENST00000389658.3	-	9	1335	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	414	Laminin EGF-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCAGAATGGAGGTCATCCT	0.443000													9	15					0	0	0.001368	0	0
ZBBX	79740	broad.mit.edu	37	3	166960362	166960362	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:166960362A>T	ENST00000392766.2	-	20	2547	c.2207T>A	c.(2206-2208)aTa>aAa	p.I736K	ZBBX_ENST00000392767.2_Missense_Mutation_p.I736K|ZBBX_ENST00000455345.2_Missense_Mutation_p.I775K|ZBBX_ENST00000307529.5_Missense_Mutation_p.I775K|ZBBX_ENST00000392764.1_Missense_Mutation_p.I707K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	736						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATCTGACTTATATTCAGTGA	0.368000													15	36					0	0	0.004007	0	0
SYT17	51760	broad.mit.edu	37	16	19278375	19278375	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:19278375C>T	ENST00000562034.1	+	6	5017	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	SYT17_ENST00000568433.1_Missense_Mutation_p.P162S|SYT17_ENST00000562711.2_Missense_Mutation_p.P464S|SYT17_ENST00000355377.2_Missense_Mutation_p.P468S			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	468	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CCGCGTGTCTCCTGCCTCCCT	0.522000													7	7					0	0	0.004482	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834107	178834107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:178834107C>T	ENST00000234816.2	-	3	1252	c.805G>A	c.(805-807)Gta>Ata	p.V269I	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.V269I|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	269						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						ATGAAAGTTACCGGTGGTATC	0.403000													25	39					0	0	0.003330	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:61413644G>A	ENST00000395348.3	-	5	1776	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SLC16A9_ENST00000395347.1_Silent_p.I380I	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000													26	22					0	0	0.003954	0	0
PLCH1	23007	broad.mit.edu	37	3	155199879	155199879	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:155199879G>A	ENST00000460012.1	-	23	4203	c.3846C>T	c.(3844-3846)acC>acT	p.T1282T	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.T1282T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1282T|PLCH1_ENST00000340059.7_Silent_p.T1320T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1320					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTTCTCCCTTGGTAGGACTTT	0.498000													38	93					0	0	0.004878	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569055	11569055	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:11569055C>T	ENST00000359227.3	-	5	958	c.534G>A	c.(532-534)gaG>gaA	p.E178E	ELAVL3_ENST00000438662.2_Silent_p.E178E	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	178	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTCGGCCTCAATCCTCT	0.592000													11	33					0	0	0.008291	0	0
TRPM2	7226	broad.mit.edu	37	21	45821766	45821766	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:45821766G>A	ENST00000397928.1	+	16	2969	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	TRPM2_ENST00000300481.9_Missense_Mutation_p.E822K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E842K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E842K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	842						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTTGGTGTGCGAGGAGATGCG	0.627000													70	113					0	0	0.003610	0	0
SALL2	6297	broad.mit.edu	37	14	21991828	21991828	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:21991828G>A	ENST00000327430.3	-	2	2328	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.F541F	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	678							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGTGGCCCACGAAATGTGCAC	0.567000													14	39					0	0	0.001855	0	0
NCOA6	23054	broad.mit.edu	37	20	33324560	33324560	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:33324560G>A	ENST00000374796.2	-	13	8466	c.5896C>T	c.(5896-5898)Ccg>Tcg	p.P1966S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1966S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1966	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTCTGCGACGGGGCTAAGGCA	0.408000													8	28					0	0	0.003080	0	0
PTPN6	5777	broad.mit.edu	37	12	7065701	7065701	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7065701C>T	ENST00000456013.1	+	9	1286	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	PTPN6_ENST00000447931.2_Silent_p.V309V|PTPN6_ENST00000399448.1_Silent_p.V350V|PTPN6_ENST00000318974.9_Silent_p.V348V	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	348	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTGTCATCGTCATGACCACCC	0.607000													18	61					0	0	0.001882	0	0
SLX4IP	128710	broad.mit.edu	37	20	10541448	10541448	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:10541448C>T	ENST00000334534.5	+	4	398	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TTCACAAGATCCAATCCCTTG	0.383000													13	27					0	0	0.001855	0	0
VANGL2	57216	broad.mit.edu	37	1	160389337	160389337	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:160389337C>T	ENST00000368061.2	+	4	1212	c.738C>T	c.(736-738)ttC>ttT	p.F246F	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	246					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCCTCAGTTCACGCTCAAGG	0.642000													18	29					0	0	0.001882	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767304	77767304	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:77767304C>T	ENST00000521891.2	+	10	8595	c.8147C>T	c.(8146-8148)tCc>tTc	p.S2716F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2671F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2671F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2690F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2671						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTTTAATATCCACCGAAGAT	0.433000										HNSCC(33;0.089)			15	36					0	0	0.006122	0	0
UTS2B	257313	broad.mit.edu	37	3	190994611	190994611	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:190994611C>T	ENST00000340524.5	-	7	1011	c.225G>A	c.(223-225)ctG>ctA	p.L75L	UTS2B_ENST00000427544.2_Silent_p.L75L	NM_198152.3	NP_937795.2			urotensin 2B																		TAAGTTCTTCCAGTTTGTTAG	0.294000													18	24					0	0	0.010504	0	0
IFNL3	282617	broad.mit.edu	37	19	39735076	39735076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:39735076C>T	ENST00000413851.2	-	2	277	c.239G>A	c.(238-240)tGg>tAg	p.W80*		NM_172139.2	NP_742151.2			interferon, lambda 3																		CCTCAGGTCCCAGGTCCTGGG	0.647000													6	17					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103483408	103483408	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:103483408G>A	ENST00000358392.2	-	11	1734	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P461S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P345S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P422S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	461	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTCCAGTGGGGCCTTGTAGA	0.383000													33	42					0	0	0.005524	0	0
GPR32	2854	broad.mit.edu	37	19	51274868	51274868	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51274868G>A	ENST00000270590.4	+	1	1148	c.1011G>A	c.(1009-1011)agG>agA	p.R337R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	337						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCTGGCGAGGGCGTTTGGAG	0.547000													46	65					0	0	0.003610	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:111155953C>T	ENST00000262839.2	-	3	1384	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000													53	18					0	0	0.003610	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372115	81372115	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:81372115G>A	ENST00000398636.3	+	4	358	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	SFTPA1_ENST00000419470.2_Missense_Mutation_p.G89R|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G15R|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G74R|SFTPA1_ENST00000428376.2_Missense_Mutation_p.G74R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	74	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGGAAATGATGGGCTGCCTGG	0.612000													72	99					0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10910328	10910328	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr21:10910328C>T	ENST00000298232.7	-	21	1741	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	TPTE_ENST00000342420.5_Silent_p.V438V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.V476V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	476	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V476V(1)|p.V458V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCACTTTCACATCATCAT	0.343000													12	108					0	0	0.001368	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607401	31607401	+	Missense_Mutation	SNP	C	C	T	rs150536106		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:31607401C>T	ENST00000170150.3	+	11	1120	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	309						extracellular region	lipid binding	p.P309S(1)									CCGCCAGTTTCCCGAGCCCAT	0.667000													6	14					0	0	0.004482	0	0
CBLC	23624	broad.mit.edu	37	19	45295716	45295716	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:45295716T>C	ENST00000270279.3	+	7	1145	c.1082T>C	c.(1081-1083)gTg>gCg	p.V361A	CBLC_ENST00000341505.4_Missense_Mutation_p.V315A	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	361					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AACAAGGATGTGAAGATTGAG	0.607000			M		AML								46	100					0	0	0.003610	0	0
LPA	4018	broad.mit.edu	37	6	161016452	161016452	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:161016452C>T	ENST00000447678.1	-	22	3523	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K	LPA_ENST00000316300.5_Missense_Mutation_p.E1135K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3643	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACTTGATTCTGTCACCAGG	0.522000													39	104					0	0	0.004878	0	0
VPS18	57617	broad.mit.edu	37	15	41191790	41191790	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41191790C>T	ENST00000220509.5	+	4	1113	c.774C>T	c.(772-774)ttC>ttT	p.F258F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	258					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACCCCCATTCCGTGAGTTTC	0.637000													25	59					0	0	0.004656	0	0
TET3	200424	broad.mit.edu	37	2	74274486	74274486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:74274486C>T	ENST00000409262.3	+	1	1037	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	346							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCAAGCGGCCTGAGGCCCTG	0.642000													12	27					0	0	0.000978	0	0
ASXL2	55252	broad.mit.edu	37	2	25966191	25966191	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:25966191C>T	ENST00000435504.4	-	13	3308	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Silent_p.E977E|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTAACTTCCTCTCTGGTGC	0.507000													15	31					0	0	0.003163	0	0
SLC43A2	124935	broad.mit.edu	37	17	1478958	1478958	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:1478958C>T	ENST00000571650.1	-	15	1968	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	SLC43A2_ENST00000412517.3_Silent_p.Q413Q|SLC43A2_ENST00000301335.4_Silent_p.Q550Q|SLC43A2_ENST00000382147.4_Silent_p.Q554Q			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	550					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGTCATCCTCCTGCCTCTGCT	0.622000													10	12					0	0	0.008291	0	0
SEC24D	9871	broad.mit.edu	37	4	119736191	119736191	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:119736191G>A	ENST00000379735.5	-	6	1067	c.796C>T	c.(796-798)Cct>Tct	p.P266S	SEC24D_ENST00000280551.6_Missense_Mutation_p.P265S|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	265	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACTGGGCTAGGGATAGAGTCA	0.507000													20	106					0	0	0.002780	0	0
BMP10	27302	broad.mit.edu	37	2	69093461	69093461	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:69093461C>T	ENST00000295379.1	-	2	735	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	193					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGTTGGTTCCATATATCTCC	0.483000													15	61					0	0	0.003163	0	0
GCDH	2639	broad.mit.edu	37	19	13007120	13007120	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:13007120C>T	ENST00000222214.5	+	8	948	c.737C>T	c.(736-738)tCg>tTg	p.S246L	GCDH_ENST00000422947.2_Missense_Mutation_p.S202L|GCDH_ENST00000457854.1_Missense_Mutation_p.S246L|GCDH_ENST00000591470.1_Missense_Mutation_p.S246L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	246					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGGGGTCTCTCGGCCCCCAGG	0.607000													22	47					0	0	0.002299	0	0
ZNF621	285268	broad.mit.edu	37	3	40571772	40571772	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40571772C>T	ENST00000339296.5	+	4	676	c.224C>T	c.(223-225)cCc>cTc	p.P75L	ZNF621_ENST00000310898.1_Missense_Mutation_p.P75L|ZNF621_ENST00000403205.2_Missense_Mutation_p.P75L|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_3'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GGCCCAGATCCCTGGGACACC	0.483000													20	78					0	0	0.010504	0	0
DENND3	22898	broad.mit.edu	37	8	142204213	142204213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:142204213G>A	ENST00000519811.1	+	23	3788	c.3718G>A	c.(3718-3720)Gag>Aag	p.E1240K	DENND3_ENST00000262585.2_Missense_Mutation_p.E1160K|DENND3_ENST00000424248.1_Missense_Mutation_p.E1108K|DENND3_ENST00000523308.1_Missense_Mutation_p.E210K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1160										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGACCGTGGAGAAGGAGCT	0.637000													29	75					0	0	0.007291	0	0
LY96	23643	broad.mit.edu	37	8	74917030	74917030	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:74917030G>A	ENST00000284818.2	+	2	203		c.e2-1		LY96_ENST00000518893.1_Intron	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96						cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATTGCTTTTAGATAAAATGCA	0.269000													15	49					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113246664	113246664	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:113246664T>G	ENST00000297405.5	-	68	10914	c.10670A>C	c.(10669-10671)tAt>tCt	p.Y3557S	CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3388S|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3487S|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3517S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3557						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						TTTAATAAGATATATGCGTAA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	100					0	0	0.003610	0	0
ARPP21	10777	broad.mit.edu	37	3	35750524	35750524	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:35750524G>A	ENST00000187397.4	+	11	1315	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	287						cytoplasm	nucleic acid binding	p.E287K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGAGAAGAGGAATATCAGAG	0.403000													10	18					0	0	0.000978	0	0
OR4A16	81327	broad.mit.edu	37	11	55110964	55110964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55110964G>A	ENST00000314721.2	+	1	338	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGCTTGCATGGGTCAGCTCT	0.448000													40	135					0	0	0.008740	0	0
GBP7	388646	broad.mit.edu	37	1	89599001	89599001	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:89599001C>T	ENST00000294671.2	-	10	1740	c.1602G>A	c.(1600-1602)atG>atA	p.M534I		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	534						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTCCCTCTCCATCTTCTTCT	0.438000													42	41					0	0	0.009718	0	0
MUC16	94025	broad.mit.edu	37	19	9082363	9082363	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9082363G>A	ENST00000397910.4	-	1	9655	c.9452C>T	c.(9451-9453)cCt>cTt	p.P3151L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3152	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						GGTCTTGGCAGGAACTGAAAT	0.443000													22	46					0	0	0.002780	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:123274229C>T	ENST00000264501.4	+	81	14393	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C			Q2LD37	K1109_HUMAN	KIAA1109	4674					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						TCCAAATTTTCGTTCAAAATC	0.368000													28	34					0	0	0.005443	0	0
FNDC9	408263	broad.mit.edu	37	5	156770394	156770394	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156770394C>T	ENST00000312349.4	-	2	338	c.151G>A	c.(151-153)Gag>Aag	p.E51K	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	51	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACCTTCTCCTCGTGGTGGAAG	0.547000													42	66					0	0	0.002522	0	0
C9orf47	286223	broad.mit.edu	37	9	91606093	91606093	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:91606093G>A	ENST00000375851.2	+	1	316	c.183G>A	c.(181-183)gaG>gaA	p.E61E	C9orf47_ENST00000334490.5_Silent_p.E61E|C9orf47_ENST00000375850.3_Silent_p.E61E	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	61						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CGCCCGATGAGGACAAGGTCT	0.701000													3	6					0	0	0.009096	0	0
NAT10	55226	broad.mit.edu	37	11	34158550	34158550	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:34158550C>T	ENST00000257829.3	+	21	2394	c.2188C>T	c.(2188-2190)Cct>Tct	p.P730S	NAT10_ENST00000531159.2_Missense_Mutation_p.P658S|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	730	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGATTTGTTCCTGTTTATCT	0.512000													12	37					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179611580	179611580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179611580G>A	ENST00000360870.5	-	46	15769	c.15547C>T	c.(15547-15549)Cca>Tca	p.P5183S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8702	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P5183T(1)		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)			ATAAAAGATGGAGGCATTTCA	0.418000													33	75					0	0	0.002445	0	0
ZNF707	286075	broad.mit.edu	37	8	144773287	144773287	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:144773287G>A	ENST00000532205.1	+	6	959	c.60G>A	c.(58-60)gaG>gaA	p.E20E	ZNF707_ENST00000442058.2_Silent_p.E20E|ZNF707_ENST00000418203.2_Silent_p.E20E|ZNF707_ENST00000532158.1_Silent_p.E20E|ZNF707_ENST00000454097.1_Silent_p.E20E|ZNF707_ENST00000358656.4_Silent_p.E20E			Q96C28	ZN707_HUMAN	zinc finger protein 707	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCAAGGGAGGAGTGGGCGT	0.607000													4	28					0	0	0.009096	0	0
OR52B4	143496	broad.mit.edu	37	11	4388826	4388826	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:4388826C>T	ENST00000408920.2	-	1	790	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAAGCATCTGGAGAAGGC	0.438000													21	64					0	0	0.002299	0	0
TRAF7	84231	broad.mit.edu	37	16	2223226	2223226	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:2223226G>C	ENST00000326181.6	+	10	970	c.838G>C	c.(838-840)Gag>Cag	p.E280Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	280					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GACCCACCTGGAGACTTGCCG	0.647000													6	9					0	0	0.001984	0	0
HLA-A	3105	broad.mit.edu	37	6	29910549	29910549	+	Missense_Mutation	SNP	G	G	A	rs45585732	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:29910549G>A	ENST00000396634.1	+	4	430	c.89G>A	c.(88-90)aGg>aAg	p.R30K	HLA-A_ENST00000376809.5_Missense_Mutation_p.R30K|HLA-A_ENST00000376806.5_Missense_Mutation_p.R30K|HLA-A_ENST00000376802.2_Missense_Mutation_p.R30K			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	30	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CACTCCATGAGGTATTTCTTC	0.721000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	19					0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152329535	152329535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152329535C>T	ENST00000388718.5	-	3	799	c.727G>A	c.(727-729)Gga>Aga	p.G243R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	243	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCCAATCCACATGACAGA	0.473000													37	110					0	0	0.004289	0	0
ITIH2	3698	broad.mit.edu	37	10	7772068	7772068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:7772068G>A	ENST00000358415.4	+	12	1599	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	ITIH2_ENST00000379587.4_Missense_Mutation_p.G467E	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	478					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGATTTATGGAAACCAGGAC	0.368000													24	57					0	0	0.005443	0	0
ZNF333	84449	broad.mit.edu	37	19	14826950	14826950	+	Silent	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:14826950T>C	ENST00000292530.6	+	9	718	c.627T>C	c.(625-627)gcT>gcC	p.A209A	ZNF333_ENST00000540689.2_Silent_p.A209A|ZNF333_ENST00000536363.1_Silent_p.A100A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	209	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CAGATGTGGCTGTGGTGTTCA	0.557000													51	87					0	0	0.003610	0	0
SLC35F3	148641	broad.mit.edu	37	1	234455868	234455868	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:234455868G>A	ENST00000366618.3	+	7	1317	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G322E	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	322					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTAAATTTTGGAATTGCCGTT	0.403000													12	43					0	0	0.000978	0	0
DMPK	1760	broad.mit.edu	37	19	46280717	46280717	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46280717G>A	ENST00000600757.1	-	7	1731	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	DMPK_ENST00000343373.4_Silent_p.F348F|DMPK_ENST00000354227.5_Silent_p.F338F|DMPK_ENST00000291270.4_Silent_p.F338F|DMPK_ENST00000447742.2_Silent_p.F338F|DMPK_ENST00000458663.2_Silent_p.F338F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	348	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGCCAAAGAAGAAGGGATGTG	0.627000													15	39					0	0	0.003163	0	0
LHX4	89884	broad.mit.edu	37	1	180243418	180243418	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:180243418G>A	ENST00000263726.2	+	6	1121	c.877G>A	c.(877-879)Gac>Aac	p.D293N	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CTTCTCCATGGACGGGACAGG	0.527000													25	89					0	0	0.003330	0	0
TJP3	27134	broad.mit.edu	37	19	3747981	3747981	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:3747981C>T	ENST00000541714.2	+	19	2974	c.2512C>T	c.(2512-2514)Ccg>Tcg	p.P838S	TJP3_ENST00000539908.2_Missense_Mutation_p.P802S|TJP3_ENST00000262968.9_Missense_Mutation_p.P871S|TJP3_ENST00000587686.1_Missense_Mutation_p.P857S|TJP3_ENST00000382008.3_Missense_Mutation_p.P852S|TJP3_ENST00000589378.1_Missense_Mutation_p.P847S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	852						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGAGCCCCCGGCTCCAGC	0.697000													7	10					0	0	0.004482	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079978	70079978	+	Missense_Mutation	SNP	G	G	A	rs142415589	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:70079978G>A	ENST00000446444.1	-	1	471	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	155					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCACAGGGAAAAACAGCA	0.398000													13	91					0	0	0.001368	0	0
LIG3	3980	broad.mit.edu	37	17	33316660	33316660	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:33316660C>T	ENST00000378526.4	+	4	1000	c.867C>T	c.(865-867)ttC>ttT	p.F289F	LIG3_ENST00000262327.5_Silent_p.F289F	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	289					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TCCAGGACTTCCTTCGGAAAG	0.552000								Other BER factors					34	51					0	0	0.006230	0	0
WFS1	7466	broad.mit.edu	37	4	6302781	6302781	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:6302781C>T	ENST00000226760.1	+	8	1429	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	WFS1_ENST00000503569.1_Missense_Mutation_p.P420L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	420					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCTCCTTCCCCATCGCCAGC	0.592000													124	226					0	0	0.003610	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446602	120446602	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:120446602C>T	ENST00000222747.3	-	7	1220		c.e7+1		TSPAN12_ENST00000415871.1_Splice_Site	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12						angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TATGGCCTCACCTCTTGATAA	0.393000													67	18					0	0	0.003610	0	0
FMNL2	114793	broad.mit.edu	37	2	153484972	153484972	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:153484972C>T	ENST00000288670.9	+	18	2692	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	FMNL2_ENST00000475377.2_Silent_p.I150I	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	775	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	p.I775I(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTAGTAAAATCGAGAGGCTCA	0.483000													38	96					0	0	0.007835	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227540	56227540	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56227540C>T	ENST00000341744.3	-	4	752	c.433G>A	c.(433-435)Gac>Aac	p.D145N	PMEPA1_ENST00000265626.4_Missense_Mutation_p.D95N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.D95N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.D95N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.D110N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	145					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGTGGCAGGTCGATCTCGTGC	0.711000													14	22					0	0	0.004990	0	0
ECT2L	345930	broad.mit.edu	37	6	139165564	139165564	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:139165564T>C	ENST00000423192.1	+	6	772	c.611T>C	c.(610-612)gTt>gCt	p.V204A	ECT2L_ENST00000541398.1_Missense_Mutation_p.V135A|ECT2L_ENST00000367682.2_Missense_Mutation_p.V204A			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	204					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTATTCAAAGTTCGACCCCCT	0.488000			"""N, Splice, Mis"""		ETP ALL								15	75					0	0	0.004007	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091096	11091096	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:11091096G>A	ENST00000537503.1	-	1	766	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	237					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATAGAGTAGGAAGAAAGTGA	0.433000													19	20					0	0	0.007413	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528392	6528392	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:6528392G>A	ENST00000377748.1	-	21	3232	c.2735C>T	c.(2734-2736)cCa>cTa	p.P912L	PLEKHG5_ENST00000400915.3_Missense_Mutation_p.P891L|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P835L|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P872L|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P835L|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P904L|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P835L|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P835L|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P914L|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P835L|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P835L	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	891					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGCCATTGGGCCTGGGGC	0.682000													6	17					0	0	0.001168	0	0
NLRP4	147945	broad.mit.edu	37	19	56370281	56370281	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:56370281A>T	ENST00000301295.6	+	3	1944	c.1522A>T	c.(1522-1524)Aat>Tat	p.N508Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.N508Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.N433Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	508							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGCCTTTTAAATAAAAAGGA	0.423000													32	55					0	0	0.002836	0	0
TAF6L	10629	broad.mit.edu	37	11	62554665	62554665	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:62554665G>A	ENST00000294168.3	+	11	1967	c.1766G>A	c.(1765-1767)aGc>aAc	p.S589N	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	589					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TACGGGCCTAGCCCGGCCTCG	0.711000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	0.004672	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804358	75804358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:75804358G>A	ENST00000550916.1	+	2	426	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.E20K|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.E62K|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.E127K|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.E127K|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.E127K	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	127						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCTGAAAATGAATTTACTGC	0.328000													22	18					0	0	0.006320	0	0
WNT11	7481	broad.mit.edu	37	11	75902750	75902750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:75902750G>A	ENST00000322563.3	-	4	872	c.748C>T	c.(748-750)Cga>Tga	p.R250*	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	250					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CCCATGGGTCGGTGCACTACC	0.617000													49	73					0	0	0.003610	0	0
FRMPD4	9758	broad.mit.edu	37	X	12516910	12516910	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:12516910C>T	ENST00000380682.1	+	2	659	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	51	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACTACTTCATCAAGTAGG	0.488000													22	11					0	0	0.003954	0	0
SAMD9L	219285	broad.mit.edu	37	7	92765204	92765204	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:92765204A>G	ENST00000318238.4	-	5	1297	c.81T>C	c.(79-81)ctT>ctC	p.L27L	SAMD9L_ENST00000411955.1_Silent_p.L27L|SAMD9L_ENST00000437805.1_Silent_p.L27L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	27	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATCTTAAGGTCTTCAT	0.383000													97	40					0	0	0.003610	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246190	33246190	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:33246190C>T	ENST00000451237.1	+	1	1274	c.994C>T	c.(994-996)Cac>Tac	p.H332Y		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	332					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCTGACGTCCCACAGGCTGGA	0.627000													45	88					0	0	0.003610	0	0
SGOL2	151246	broad.mit.edu	37	2	201438509	201438509	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:201438509T>G	ENST00000357799.4	+	7	3538	c.3440T>G	c.(3439-3441)aTa>aGa	p.I1147R		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1147					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCACCTAACATACAAGATTCT	0.343000													19	47					0	0	0.007413	0	0
FGF16	8823	broad.mit.edu	37	X	76711795	76711795	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:76711795C>T	ENST00000439435.1	+	2	132	c.132C>T	c.(130-132)tcC>tcT	p.S44S				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						ATGTGTTTTCCGGGAACAGTT	0.423000													35	40					0	0	0.006999	0	0
TBC1D23	55773	broad.mit.edu	37	3	100016779	100016779	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:100016779C>T	ENST00000394144.4	+	9	896	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	TBC1D23_ENST00000344949.5_Missense_Mutation_p.L297F|TBC1D23_ENST00000475134.1_Missense_Mutation_p.L160F|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	297						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TAATCACCATCTCTTTGGTAG	0.343000													15	27					0	0	0.010504	0	0
OBSCN	84033	broad.mit.edu	37	1	228482045	228482045	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228482045C>T	ENST00000570156.2	+	47	12685	c.12611C>T	c.(12610-12612)gCt>gTt	p.A4204V	OBSCN_ENST00000359599.6_Missense_Mutation_p.A2622V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3775V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3775V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A894V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A894V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3247	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGCCTGGCTGTGGTGGAT	0.617000													17	74					0	0	0.004990	0	0
CFTR	1080	broad.mit.edu	37	7	117171169	117171169	+	Splice_Site	SNP	G	G	A	rs78756941		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:117171169G>A	ENST00000003084.6	+	4	621		c.e4+1		CFTR_ENST00000454343.1_Splice_Site	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)						respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTATAAGAAGGTAATACTTCC	0.383000									Cystic Fibrosis				19	3					0	0	0.008871	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849490	102849490	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:102849490G>A	ENST00000264257.2	+	10	1329	c.1203G>A	c.(1201-1203)gtG>gtA	p.V401V	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.V401V|IL1RL2_ENST00000441515.2_Silent_p.V283V	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	401	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGCATGCCGTGGATGCCCTGG	0.483000													26	58					0	0	0.005443	0	0
NBEA	26960	broad.mit.edu	37	13	35733271	35733271	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:35733271C>T	ENST00000400445.3	+	22	3497	c.2963C>T	c.(2962-2964)tCa>tTa	p.S988L	NBEA_ENST00000379939.2_Missense_Mutation_p.S988L|NBEA_ENST00000310336.4_Missense_Mutation_p.S988L|NBEA_ENST00000540320.1_Missense_Mutation_p.S988L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	988						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTGGTCTTTCATCACAGACA	0.423000													27	33					0	0	0.002836	0	0
TAGAP	117289	broad.mit.edu	37	6	159461762	159461762	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:159461762G>A	ENST00000367066.3	-	7	911	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Silent_p.L194L|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.L16L	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	194	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TACTGTTTCAGGGCCTCGATT	0.493000													20	49					0	0	0.004656	0	0
PDE1B	5153	broad.mit.edu	37	12	54967154	54967154	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:54967154C>T	ENST00000243052.3	+	9	1288	c.852C>T	c.(850-852)atC>atT	p.I284I	PDE1B_ENST00000550620.1_Silent_p.I264I|PDE1B_ENST00000538346.1_Silent_p.I243I|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	284	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AATGTGCCATCGTGTACAATG	0.522000													27	75					0	0	0.008361	0	0
NOS1	4842	broad.mit.edu	37	12	117768658	117768658	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:117768658C>T	ENST00000317775.6	-	2	902	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	NOS1_ENST00000338101.4_Missense_Mutation_p.V73M|NOS1_ENST00000344089.3_Missense_Mutation_p.V73M	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	73	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCAGGTCCACCAAGGGCCGG	0.617000													20	12					0	0	0.007413	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63920114	63920114	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:63920114G>A	ENST00000371092.3	-	7	541	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	ITGB3BP_ENST00000461681.1_5'UTR|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.L122F|ITGB3BP_ENST00000271002.10_Missense_Mutation_p.L122F	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	122					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						ATTCCAATGAGATTTTCAAGC	0.338000													10	27					0	0	0.001855	0	0
KIF26A	26153	broad.mit.edu	37	14	104641820	104641820	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:104641820C>T	ENST00000315264.7	+	11	2656	c.2278C>T	c.(2278-2280)Cct>Tct	p.P760S	KIF26A_ENST00000423312.2_Missense_Mutation_p.P899S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	899					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCCAGCACCCCTCGAGGCAG	0.697000													5	9					0	0	0.000602	0	0
LRPPRC	10128	broad.mit.edu	37	2	44200775	44200775	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:44200775A>G	ENST00000260665.7	-	11	1397	c.1340T>C	c.(1339-1341)gTt>gCt	p.V447A	LRPPRC_ENST00000409946.1_Missense_Mutation_p.V447A|LRPPRC_ENST00000409659.1_Missense_Mutation_p.V447A	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	447					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCGACGTCCAACTAGCAATGG	0.403000													148	313					0	0	0.003610	0	0
OR5B17	219965	broad.mit.edu	37	11	58126225	58126225	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58126225G>A	ENST00000357377.3	-	1	317	c.318C>T	c.(316-318)gcC>gcT	p.A106A		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTTCCACAGTGGCAAAGACTG	0.478000													15	23					0	0	0.002450	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541593	96541593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:96541593C>T	ENST00000371321.3	+	5	740	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	220					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAATAATTTTCCCACTATCAT	0.274000													14	12					0	0	0.004990	0	0
MROH2B	133558	broad.mit.edu	37	5	41051193	41051193	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:41051193C>T	ENST00000399564.4	-	13	1681		c.e13-1		MROH2B_ENST00000506092.2_Splice_Site	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTGGTTTCTCCTTTAAGAAAG	0.433000													3	10					0	0	0.004672	0	0
GABRB1	2560	broad.mit.edu	37	4	47405379	47405379	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:47405379G>A	ENST00000295454.3	+	6	881	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	GABRB1_ENST00000538619.1_Missense_Mutation_p.E127K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	197					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATGGAGGAGAAGGGGCAGT	0.378000													11	41					0	0	0.000978	0	0
CALML3	810	broad.mit.edu	37	10	5567446	5567446	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:5567446G>A	ENST00000315238.1	+	1	523	c.398G>A	c.(397-399)gGa>gAa	p.G133E	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	133	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GACACGGACGGAGACGGACAG	0.672000													8	30					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9074177	9074177	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9074177A>T	ENST00000397910.4	-	3	13472	c.13269T>A	c.(13267-13269)ttT>ttA	p.F4423L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4425	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						CTGATTGCATAAAATCTGGAG	0.493000													54	121					0	0	0.003610	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102123	20102123	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:20102123G>C	ENST00000252136.7	-	7	1595	c.1207C>G	c.(1207-1209)Cgg>Ggg	p.R403G	TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R403G|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R403G|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R403G	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	403					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GGAGAGATCCGGAAGGTCAGC	0.627000													31	90					0	0	0.004289	0	0
TRMT44	152992	broad.mit.edu	37	4	8469678	8469678	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:8469678C>T	ENST00000389737.4	+	9	1532	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	TRMT44_ENST00000513449.2_Missense_Mutation_p.S270F	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		TACCCTTCCTCCAGAGAAGCT	0.507000													28	30					0	0	0.002445	0	0
SYMPK	8189	broad.mit.edu	37	19	46319823	46319823	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46319823G>A	ENST00000245934.7	-	25	3515	c.3271C>T	c.(3271-3273)Cct>Tct	p.P1091S	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1091					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGGAGTTAGGGATGTGAGCT	0.667000													11	37					0	0	0.001368	0	0
TIGD6	81789	broad.mit.edu	37	5	149375197	149375197	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:149375197T>C	ENST00000296736.3	-	2	1489	c.715A>G	c.(715-717)Aag>Gag	p.K239E	TIGD6_ENST00000515406.2_Missense_Mutation_p.K239E	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	239	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGAATGTTCTTGAGGCAGTGT	0.498000													14	32					0	0	0.003163	0	0
C1orf116	79098	broad.mit.edu	37	1	207195889	207195889	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:207195889C>T	ENST00000359470.5	-	4	1469	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	C1orf116_ENST00000461135.2_Missense_Mutation_p.G161E	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	407	Ala-rich.					cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					cagagccttcccagcagcagg	0.607000													21	23					0	0	0.008871	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284790	55284790	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55284790C>T	ENST00000336077.6	+	3	116	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H26Y|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	26					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCTAGGAGTCCACAGAAAACC	0.502000													6	94					0	0	0.008871	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298727	79298727	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:79298727T>A	ENST00000419573.3	-	15	2189	c.1915A>T	c.(1915-1917)Acc>Tcc	p.T639S	RASGRF1_ENST00000558480.2_Missense_Mutation_p.T626S|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	639					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						GAGTTCATGGTTTTGCTGAAG	0.542000													24	105					0	0	0.003954	0	0
TNS3	64759	broad.mit.edu	37	7	47454705	47454705	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:47454705G>A	ENST00000398879.1	-	11	939	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TNS3_ENST00000442536.2_Silent_p.F191F|TNS3_ENST00000458317.2_Silent_p.F191F|TNS3_ENST00000355730.3_Silent_p.F191F|TNS3_ENST00000311160.9_Silent_p.F191F			Q68CZ2	TENS3_HUMAN	tensin 3	191	C2 tensin-type.					focal adhesion	protein binding	p.F191fs*10(2)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCTGTGTCGAAGTTGGGGG	0.572000													14	16					0	0	0.002450	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986304	51986304	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:51986304C>T	ENST00000396477.4	+	4	728	c.707C>T	c.(706-708)cCt>cTt	p.P236L	CEACAM18_ENST00000451626.1_Missense_Mutation_p.P297L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	297						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGAGCAATCCTGATGATTTC	0.537000													64	132					0	0	0.003610	0	0
DKK2	27123	broad.mit.edu	37	4	107845144	107845144	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:107845144G>A	ENST00000285311.3	-	4	1452	c.747C>T	c.(745-747)tcC>tcT	p.S249S	DKK2_ENST00000513208.1_Silent_p.S149S|DKK2_ENST00000510463.1_Silent_p.S203S	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	249	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTCTGGCTTTGGAGGAGTAGG	0.448000													33	62					0	0	0.004289	0	0
RGS12	6002	broad.mit.edu	37	4	3319336	3319336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:3319336C>T	ENST00000336727.3	+	2	2343	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	RGS12_ENST00000344733.5_Missense_Mutation_p.P480L|RGS12_ENST00000543385.1_Missense_Mutation_p.P480L|RGS12_ENST00000382788.3_Missense_Mutation_p.P480L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	480						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCGGACCCCGAAGGGAGC	0.682000													18	43					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179605026	179605026	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179605026C>T	ENST00000589042.1	-	48	13158	c.12934G>A	c.(12934-12936)Gaa>Aaa	p.E4312K	TTN_ENST00000359218.5_Missense_Mutation_p.E4074K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3949K|TTN_ENST00000342175.6_Missense_Mutation_p.E4141K|TTN_ENST00000591111.1_Missense_Mutation_p.E3995K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3995	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3949K(1)|p.E4141K(1)|p.E4074K(1)		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)			CCTGCATTTTCCAGTGGATTT	0.433000													27	54					0	0	0.004656	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33631448	33631448	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:33631448G>A	ENST00000321505.4	+	14	4504	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1448K					KIAA1549-like																		AGCCCCGAAGGAAATGGAGCA	0.478000													19	50					0	0	0.010504	0	0
ANGPT4	51378	broad.mit.edu	37	20	896816	896816	+	Silent	SNP	A	A	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:896816A>C	ENST00000381922.3	-	1	144	c.42T>G	c.(40-42)ctT>ctG	p.L14L	ANGPT4_ENST00000546022.1_Silent_p.L14L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	14					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGCAACCACAAGGAGGAGGC	0.592000													21	34					0	0	0.002299	0	0
HEATR5B	54497	broad.mit.edu	37	2	37265141	37265141	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:37265141G>A	ENST00000233099.5	-	21	3168	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1025C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1025							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAGAGGAACGAATTGTAGAA	0.363000													21	17					0	0	0.008361	0	0
TMC7	79905	broad.mit.edu	37	16	19067872	19067872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:19067872C>T	ENST00000421369.3	+	14	2108	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	TMC7_ENST00000304381.5_Missense_Mutation_p.S627F|TMC7_ENST00000569532.1_Missense_Mutation_p.S627F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	627						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGCATCCCTTCCTCGAAAGCC	0.572000													25	28					0	0	0.004656	0	0
XIRP1	165904	broad.mit.edu	37	3	39230591	39230591	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:39230591C>T	ENST00000340369.3	-	2	574	c.346G>A	c.(346-348)Gag>Aag	p.E116K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E116K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	116							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCACGGGCTCCTTGGCAGCT	0.607000													27	56					0	0	0.007291	0	0
FCRL5	83416	broad.mit.edu	37	1	157490960	157490960	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:157490960G>A	ENST00000361835.3	-	11	2519	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.H788Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	788	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGAAAAAACCGG	0.592000													10	86					0	0	0.008291	0	0
LOC401127	401127	broad.mit.edu	37	4	39483090	39483090	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:39483090C>T	ENST00000513652.1	+	0	1097																											CTGTTAAGTCCCTTTGCTCCC	0.507000													3	21					0	0	0.004672	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939610	12939610	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:12939610C>T	ENST00000235349.5	-	4	1262	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	398										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGTTCTCCAGGGTGGCC	0.542000													93	215					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152646420	152646420	+	Silent	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:152646420A>G	ENST00000367255.5	-	81	16057	c.15456T>C	c.(15454-15456)gtT>gtC	p.V5152V	SYNE1_ENST00000423061.1_Silent_p.V5081V|SYNE1_ENST00000341594.5_Silent_p.V4845V|SYNE1_ENST00000265368.4_Silent_p.V5152V|SYNE1_ENST00000448038.1_Silent_p.V5081V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5152					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAAAGAGTTAACCACTGACA	0.443000										HNSCC(10;0.0054)			42	82					0	0	0.006230	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185837	127185837	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:127185837C>T	ENST00000371124.3	-	1	545	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	117						cytoplasm|cytoskeleton		p.E117K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCTCGAATTTCCCTAGGATTC	0.488000													105	52					0	0	0.003610	0	0
RMDN3	55177	broad.mit.edu	37	15	41044186	41044186	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:41044186G>A	ENST00000260385.6	-	2	1445	c.378C>T	c.(376-378)gtC>gtT	p.V126V	RMDN3_ENST00000338376.3_Silent_p.V126V|RMDN3_ENST00000558560.1_5'UTR					regulator of microtubule dynamics 3																		TTACTCACCGGACCTCCCCAA	0.592000													17	36					0	0	0.004990	0	0
TRAT1	50852	broad.mit.edu	37	3	108568052	108568052	+	Missense_Mutation	SNP	G	G	A	rs138442609	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:108568052G>A	ENST00000295756.6	+	5	484	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	TRAT1_ENST00000426646.1_Missense_Mutation_p.R48Q	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	85					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGAAAGCCCGACCAGAGAAA	0.343000													15	49					0	0	0.010504	0	0
ZNF619	285267	broad.mit.edu	37	3	40523356	40523356	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:40523356C>T	ENST00000447116.2	+	3	334	c.27C>T	c.(25-27)ggC>ggT	p.G9G	ZNF619_ENST00000521353.1_Silent_p.G9G|ZNF619_ENST00000429348.2_Silent_p.G9G|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000432264.2_Silent_p.G9G|ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000520737.1_Intron	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	9					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGTGCAGGGCTTGGGCAGGA	0.532000													33	58					0	0	0.009535	0	0
USP21	27005	broad.mit.edu	37	1	161133953	161133953	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:161133953G>A	ENST00000368002.3	+	10	1595		c.e10-1		USP21_ENST00000368001.1_Splice_Site|USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Splice_Site	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21						histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTTCCCCCAGAAAGGATTTG	0.478000													10	48					0	0	0.006214	0	0
FREM2	341640	broad.mit.edu	37	13	39454855	39454855	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:39454855G>A	ENST00000280481.7	+	24	9657	c.9441G>A	c.(9439-9441)ccG>ccA	p.P3147P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3147					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGATGCCCCGAAAGGCTCCA	0.547000													15	18					0	0	0.003163	0	0
F2RL1	2150	broad.mit.edu	37	5	76128722	76128722	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:76128722T>A	ENST00000296677.4	+	2	496	c.290T>A	c.(289-291)cTg>cAg	p.L97Q		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	97					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GGCATGGCCCTGTGGGTCTTT	0.488000													195	444					0	0	0.003610	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624250	31624250	+	Splice_Site	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:31624250G>A	ENST00000349552.1	+	7	577		c.e7-1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6							extracellular region	lipid binding										TTTTCACACAGACCCCATGCC	0.587000													37	114					0	0	0.008740	0	0
ATP2B4	493	broad.mit.edu	37	1	203676226	203676226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:203676226G>A	ENST00000357681.5	+	9	2312	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ATP2B4_ENST00000341360.2_Missense_Mutation_p.E397K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E397K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E385K|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E397K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	397					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGCTCCCTGAGTGTACTCC	0.493000													6	47					0	0	0.001168	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657127	81657127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:81657127G>A	ENST00000550584.2	-	30	3893	c.3598C>T	c.(3598-3600)Cag>Tag	p.Q1200*	PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q1179*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q386*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q1200*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q1047*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q1099*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q1194*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q736*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q1185*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q1095*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q1188*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1099										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAGGAAACTGCCTTCTCCAG	0.448000													11	19					0	0	0.001368	0	0
GLRA1	2741	broad.mit.edu	37	5	151234728	151234728	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:151234728C>T	ENST00000274576.4	-	6	862	c.570G>A	c.(568-570)acG>acA	p.T190T	GLRA1_ENST00000455880.2_Silent_p.T190T|GLRA1_ENST00000545569.1_Silent_p.T107T|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	190					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTCATTCATCGTATATCCAA	0.483000													37	53					0	0	0.004878	0	0
CHST10	9486	broad.mit.edu	37	2	101010058	101010058	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:101010058G>A	ENST00000264249.3	-	7	1105	c.720C>T	c.(718-720)ttC>ttT	p.F240F	CHST10_ENST00000409701.1_Silent_p.F240F|CHST10_ENST00000542617.1_Silent_p.F288F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	240					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGTAGCGCACGAAATCTTCAA	0.542000													57	138					0	0	0.003610	0	0
GCM1	8521	broad.mit.edu	37	6	53010427	53010427	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:53010427C>T	ENST00000259803.7	-	2	215	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	2						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)					TCGTCAGGTTCCATGATAAGG	0.413000													24	49					0	0	0.003330	0	0
HMCN1	83872	broad.mit.edu	37	1	186086707	186086707	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:186086707G>A	ENST00000271588.4	+	77	12029	c.11800G>A	c.(11800-11802)Ggt>Agt	p.G3934S	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3934S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3934	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCAAAAATGGTATAAGACT	0.423000													19	67					0	0	0.010504	0	0
LOC101926911	101926911	broad.mit.edu	37	15	91578389	91578389	+	RNA	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr15:91578389C>T	ENST00000557804.1	+	0	707																											CATCTTCCTTCCACGTCCCTC	0.577000													6	29					0	0	0.001984	0	0
RIC3	79608	broad.mit.edu	37	11	8132361	8132361	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:8132361C>T	ENST00000396677.2	-	3	507	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	RIC3_ENST00000343202.4_Missense_Mutation_p.E331K|RIC3_ENST00000335425.7_Missense_Mutation_p.E150K|RIC3_ENST00000425599.2_Missense_Mutation_p.E251K|RIC3_ENST00000539720.1_Missense_Mutation_p.E283K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E332K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	332						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTGGTGGTTTCCTCTTGCTCA	0.483000													39	80					0	0	0.006230	0	0
GPC3	2719	broad.mit.edu	37	X	132826495	132826495	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:132826495G>A	ENST00000370818.3	-	5	1639	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	GPC3_ENST00000394299.2_Silent_p.F421F|GPC3_ENST00000543339.1_Silent_p.F344F	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	398						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCTGATGAAAGACTTCA	0.418000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				18	17					0	0	0.001882	0	0
CHD5	26038	broad.mit.edu	37	1	6204202	6204202	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:6204202C>T	ENST00000262450.3	-	12	1915	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	606	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCACATCCCCCTTCTTGTCA	0.552000													30	68					0	0	0.002096	0	0
KLHL1	57626	broad.mit.edu	37	13	70371006	70371006	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr13:70371006C>T	ENST00000377844.4	-	7	2262	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	KLHL1_ENST00000545028.1_Silent_p.V308V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	501					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAATAACAGCCACACCAAACT	0.408000													17	96					0	0	0.004990	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585331	70585331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:70585331C>T	ENST00000260126.3	-	10	3026	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.E719K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	774						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGGGGAAATTCTCTCTGCCTC	0.517000													35	67					0	0	0.006230	0	0
ZBP1	81030	broad.mit.edu	37	20	56191419	56191419	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:56191419T>C	ENST00000340462.4	-	2	420	c.140A>G	c.(139-141)cAa>cGa	p.Q47R	ZBP1_ENST00000343535.4_Missense_Mutation_p.Q47R|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000371173.3_Missense_Mutation_p.Q47R|ZBP1_ENST00000541799.1_Missense_Mutation_p.Q47R|ZBP1_ENST00000538947.1_5'UTR			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	47						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTAGAGGACTTGGTTGAGCTC	0.567000													65	95					0	0	0.003610	0	0
SEC24A	10802	broad.mit.edu	37	5	134059340	134059340	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:134059340C>T	ENST00000398844.2	+	22	3435	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1049					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCATTTTTCCCAATACTTT	0.368000													18	58					0	0	0.010504	0	0
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	G	A	rs112238716		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:17221565G>A	ENST00000261381.6	-	10	2265	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	727					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493000													69	64					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228451840	228451840	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:228451840G>A	ENST00000570156.2	+	18	5235	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E1537K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E193K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1537K|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	707					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTGCCAAGGAGCAGCCAGC	0.652000													7	28					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9057040	9057040	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:9057040G>A	ENST00000397910.4	-	3	30609	c.30406C>T	c.(30406-30408)Ccc>Tcc	p.P10136S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10138	Ser-rich.|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						ATGGAAGAGGGAGTACCCACT	0.468000													16	33					0	0	0.006122	0	0
LILRB1	10859	broad.mit.edu	37	19	55147030	55147030	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:55147030G>A	ENST00000396331.1	+	14	1977	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	LILRB1_ENST00000324602.7_Silent_p.Q541Q|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.Q524Q|LILRB1_ENST00000396332.4_Silent_p.Q540Q|LILRB1_ENST00000396327.3_Silent_p.Q541Q|LILRB1_ENST00000427581.2_Silent_p.Q590Q|LILRB1_ENST00000396321.2_Silent_p.Q540Q|LILRB1_ENST00000396317.1_Silent_p.Q524Q|LILRB1_ENST00000434867.2_Silent_p.Q540Q|LILRB1_ENST00000396315.1_Silent_p.Q541Q	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	540					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCACACACAGCCTGAGGATG	0.607000										HNSCC(37;0.09)			42	94					0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43483832	43483832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:43483832C>T	ENST00000395891.1	+	11	1666	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	HECW1_ENST00000453890.1_Missense_Mutation_p.S354F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	354					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGGAGATTTCCCTGAGTACC	0.507000													19	46					0	0	0.001882	0	0
OR14C36	127066	broad.mit.edu	37	1	248512753	248512753	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:248512753T>A	ENST00000317861.1	+	1	677	c.677T>A	c.(676-678)tTt>tAt	p.F226Y		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTGCTCGGGTTTCCAAGAGGA	0.498000													13	71					0	0	0.001855	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401009	11401009	+	Silent	SNP	G	G	A	rs139094851		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:11401009G>A	ENST00000002596.5	-	2	1795	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	207						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.F207F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGCGCAGCGGGAAAAAGCGCA	0.597000													15	19					0	0	0.003163	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20132822	20132822	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr22:20132822C>T	ENST00000334554.7	+	11	2338	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P641S|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	733						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCGGCTGGGACCTGCCACCGG	0.637000													44	61					0	0	0.002522	0	0
FMN2	56776	broad.mit.edu	37	1	240492391	240492391	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:240492391G>A	ENST00000319653.9	+	9	4461	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	FMN2_ENST00000545751.1_Missense_Mutation_p.E7K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1411	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	p.E1554K(1)		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)			ACAGTCAGACGAACTCGAAAA	0.363000													15	33					0	0	0.002450	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938863	2938863	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:2938863C>T	ENST00000378404.2	+	1	818	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	205						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACACCTTCCCCTGCCAGCT	0.642000													14	54					0	0	0.002450	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765522	18765522	+	Splice_Site	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:18765522C>T	ENST00000304081.4	-	5	824		c.e5-1		NT5C1B-RDH14_ENST00000532967.1_Splice_Site|NT5C1B_ENST00000359846.2_Splice_Site|NT5C1B_ENST00000600945.1_Splice_Site	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGGGTTTGGGCTGCAGAGAGG	0.577000													27	65					0	0	0.005443	0	0
OR8U1	219417	broad.mit.edu	37	11	56143630	56143630	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56143630C>T	ENST00000302270.1	+	1	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCAACCATTTCTATTGTGATG	0.463000													24	228					0	0	0.008361	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409093	56409093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:56409093C>T	ENST00000544374.1	-	1	854	c.826G>A	c.(826-828)Gag>Aag	p.E276K	OR5AP2_ENST00000302981.1_Missense_Mutation_p.E275K			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGTCTTGCTCCATTGAGTAG	0.408000													23	48					0	0	0.002780	0	0
MYH6	4624	broad.mit.edu	37	14	23853878	23853878	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr14:23853878G>A	ENST00000405093.3	-	36	5408	c.5338C>T	c.(5338-5340)Cac>Tac	p.H1780Y	MYH6_ENST00000356287.3_Missense_Mutation_p.H1780Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1780					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCTCCAGGTGGGCGCTGGTG	0.622000													23	74					0	0	0.005443	0	0
IPCEF1	26034	broad.mit.edu	37	6	154520941	154520941	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:154520941C>T	ENST00000265198.4	-	10	923	c.768G>A	c.(766-768)aaG>aaA	p.K256K	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Silent_p.K257K|IPCEF1_ENST00000422970.2_Silent_p.K257K|IPCEF1_ENST00000519344.1_Silent_p.K228K|IPCEF1_ENST00000519091.1_5'UTR	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TTTCCAGGGCCTTGTGGATGC	0.423000													25	74					0	0	0.004656	0	0
TRPM4	54795	broad.mit.edu	37	19	49671177	49671177	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:49671177C>T	ENST00000252826.5	+	4	397	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.L91F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	91					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCCACAGTTCCTCCGGCTCTC	0.632000													53	89					0	0	0.003610	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423263	47423263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:47423263C>T	ENST00000404338.3	+	1	1331	c.1331C>T	c.(1330-1332)cCt>cTt	p.P444L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	444	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGACTTCTCCTTTCATAACT	0.453000													18	32					0	0	0.006122	0	0
OPRK1	4986	broad.mit.edu	37	8	54141918	54141918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:54141918C>T	ENST00000265572.3	-	4	1379	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	OPRK1_ENST00000520287.1_Missense_Mutation_p.R361Q|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R272Q	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	361					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R361Q(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AACTGTATTTCGGACTCTGCT	0.478000													19	48					0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome				44	111					0	0	0.007835	0	0
LDHA	3939	broad.mit.edu	37	11	18424479	18424479	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:18424479C>T	ENST00000422447.3	+	5	784	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	LDHA_ENST00000227157.4_Missense_Mutation_p.R171C|LDHA_ENST00000396222.2_Missense_Mutation_p.R171C|LDHA_ENST00000540430.1_Missense_Mutation_p.R200C|LDHA_ENST00000379412.5_Missense_Mutation_p.R171C|LDHA_ENST00000430553.2_Missense_Mutation_p.R113C|LDHA_ENST00000542179.1_Missense_Mutation_p.R171C	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	171					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AGCCCGATTCCGTTACCTAAT	0.463000													19	50					0	0	0.001882	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601949	58601949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:58601949G>A	ENST00000287275.1	-	6	1228	c.838C>T	c.(838-840)Cct>Tct	p.P280S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.P280S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	280						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CAGCCACAAGGACAAATCTTA	0.353000													16	36					0	0	0.004007	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702317	25702317	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:25702317C>T	ENST00000282881.6	-	2	339	c.190G>A	c.(190-192)Gga>Aga	p.G64R	IFLTD1_ENST00000413632.2_Missense_Mutation_p.G85R|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.G85R	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	64						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTCAATTGTCCAGTTGTTGAT	0.388000													25	26					0	0	0.003954	0	0
CYFIP2	26999	broad.mit.edu	37	5	156768097	156768097	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:156768097C>T	ENST00000347377.6	+	23	3036	c.2605C>T	c.(2605-2607)Cct>Tct	p.P869S	CYFIP2_ENST00000521420.1_Missense_Mutation_p.P843S|CYFIP2_ENST00000442283.2_Splice_Site_p.S153_splice|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P794S|CYFIP2_ENST00000522463.1_Missense_Mutation_p.P673S|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P894S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.P568S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P869S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	894					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACTGCCATTCCTTTCACCCA	0.463000													148	349					0	0	0.003610	0	0
SMARCC2	6601	broad.mit.edu	37	12	56559111	56559111	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:56559111C>T	ENST00000394023.3	-	27	3328	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R	SMARCC2_ENST00000550164.1_Missense_Mutation_p.G1075R|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G1044R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.G1075R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1044	Pro-rich.				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)			CCATGGGGTCCAGGGGGGGGA	0.577000													40	70					0	0	0.003610	0	0
PLCL1	5334	broad.mit.edu	37	2	198949057	198949057	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:198949057C>T	ENST00000428675.1	+	2	1214	c.816C>T	c.(814-816)aaC>aaT	p.N272N	PLCL1_ENST00000437704.2_Silent_p.N174N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	272					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AACAACTCAACCCTACTCTGA	0.418000													27	66					0	0	0.006320	0	0
RIMS3	9783	broad.mit.edu	37	1	41092339	41092339	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:41092339G>A	ENST00000372684.3	-	8	1246	c.777C>T	c.(775-777)atC>atT	p.I259I	RIMS3_ENST00000372683.1_Silent_p.I259I	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	259					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)			CGTCCAGCATGATCTGGGCCA	0.627000													15	25					0	0	0.007413	0	0
KIFC2	90990	broad.mit.edu	37	8	145697783	145697783	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:145697783G>A	ENST00000301332.2	+	15	2024	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	549	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCTGGCCGTGAGGCAGGGCC	0.657000													11	29					0	0	0.001368	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857743	101857743	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:101857743C>T	ENST00000263468.8	+	9	3485	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S873F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1072							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCCTAGAGTCCCTTAATGAT	0.303000													6	33					0	0	0.003080	0	0
PTPRK	5796	broad.mit.edu	37	6	128643228	128643228	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:128643228G>A	ENST00000368227.3	-	3	817	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PTPRK_ENST00000368207.3_Missense_Mutation_p.R151W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.R151W|PTPRK_ENST00000525459.1_Missense_Mutation_p.R151W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R151W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R151W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R151W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R151W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	151	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGCTCAGCCCGAAGCCAATCT	0.423000													19	54					0	0	0.006122	0	0
CCDC108	255101	broad.mit.edu	37	2	219871215	219871215	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:219871215G>T	ENST00000341552.5	-	30	4774	c.4691C>A	c.(4690-4692)aCa>aAa	p.T1564K	CCDC108_ENST00000441968.1_Missense_Mutation_p.T1564K|CCDC108_ENST00000453220.1_Missense_Mutation_p.T1564K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1564						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCACAGGCTGTGCAGCATGT	0.567000													53	107					4.88506e-25	5.67693e-25	0.003610	1	0
NPC1	4864	broad.mit.edu	37	18	21116700	21116700	+	Missense_Mutation	SNP	A	A	G	rs80358259		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:21116700A>G	ENST00000269228.5	-	21	3736	c.3182T>C	c.(3181-3183)aTa>aCa	p.I1061T	NPC1_ENST00000412552.2_Missense_Mutation_p.I743T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1061			I -> T (in NPC1; late infantile form).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTACTGGCTATAAGTCGGGC	0.522000													13	17					0	0	0.002450	0	0
DERL2	51009	broad.mit.edu	37	17	5383831	5383831	+	Silent	SNP	G	G	A	rs148853119	by1000genomes	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr17:5383831G>A	ENST00000158771.4	-	5	454	c.399C>T	c.(397-399)agC>agT	p.S133S	DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	133					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GGTTCCTTCGGCTCCACACAT	0.483000													28	133					0	0	0.008361	0	0
INTU	27152	broad.mit.edu	37	4	128632131	128632131	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:128632131C>T	ENST00000335251.5	+	14	2536	c.2433C>T	c.(2431-2433)atC>atT	p.I811I		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	811										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGCAAGGAATCTTTATTACTC	0.398000													17	47					0	0	0.001882	0	0
HAUS1	115106	broad.mit.edu	37	18	43702488	43702488	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr18:43702488C>T	ENST00000282058.6	+	5	612	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	178					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGTTGATAATCGTCGTCAGAA	0.378000													23	28					0	0	0.002780	0	0
RHOH	399	broad.mit.edu	37	4	40245307	40245307	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:40245307G>A	ENST00000381799.4	+	3	1025	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RHOH_ENST00000505618.1_Missense_Mutation_p.E101K	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	101					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GTGGATTGGTGAAATTAGGAG	0.577000													9	38					0	0	0.008291	0	0
PRKCD	5580	broad.mit.edu	37	3	53213622	53213622	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:53213622C>T	ENST00000394729.2	+	3	473	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	PRKCD_ENST00000330452.3_Missense_Mutation_p.P49S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	49	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCAGAAGAAGCCGACCATGTA	0.592000													7	24					0	0	0.003080	0	0
PLCG2	5336	broad.mit.edu	37	16	81944272	81944272	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:81944272C>T	ENST00000359376.3	+	18	2095	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	627	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCCGAGTTCGAGCTGCGGC	0.632000													52	56					0	0	0.003610	0	0
GABRA4	2557	broad.mit.edu	37	4	46930291	46930291	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:46930291A>G	ENST00000264318.3	-	9	2598	c.1616T>C	c.(1615-1617)gTt>gCt	p.V539A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	539					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAAATAAACAACCCAATAAAC	0.368000													14	57					0	0	0.003163	0	0
ASTN1	460	broad.mit.edu	37	1	176926840	176926840	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:176926840G>A	ENST00000367654.2	-	11	1898	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C			O14525	ASTN1_HUMAN	astrotactin 1	629	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGCTTGCGATCTGAAATA	0.537000													17	41					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38877410	38877410	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:38877410C>T	ENST00000359357.3	+	63	9233	c.8979C>T	c.(8977-8979)ttC>ttT	p.F2993F	DNAH8_ENST00000449981.2_Silent_p.F3210F|DNAH8_ENST00000441566.1_Silent_p.F2957F					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						CCTCCTACTTCCTTTCAGACT	0.448000													23	59					0	0	0.002780	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462659	50462659	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:50462659T>C	ENST00000447370.2	-	5	1105	c.1015A>G	c.(1015-1017)Agg>Ggg	p.R339G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R339G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	339	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GAGCCAAGCCTGTTCTCCGCT	0.672000													30	70					0	0	0.002445	0	0
PTPN6	5777	broad.mit.edu	37	12	7069123	7069123	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:7069123C>T	ENST00000456013.1	+	12	1637	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	PTPN6_ENST00000447931.2_Silent_p.V426V|PTPN6_ENST00000399448.1_Silent_p.V467V|PTPN6_ENST00000318974.9_Silent_p.V465V|PTPN6_ENST00000539029.1_3'UTR	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	465	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCATCATTGTCATCGACATGC	0.667000													38	116					0	0	0.002522	0	0
PGD	5226	broad.mit.edu	37	1	10460543	10460543	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:10460543G>A	ENST00000538557.1	+	3	383	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PGD_ENST00000270776.8_Missense_Mutation_p.E60K|PGD_ENST00000541529.1_Missense_Mutation_p.E60K			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	60					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTCCCTGAAAGAGATGGTCTC	0.512000													35	56					0	0	0.003755	0	0
LPAR4	2846	broad.mit.edu	37	X	78010978	78010978	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:78010978C>T	ENST00000435339.2	+	2	1017	c.612C>T	c.(610-612)atC>atT	p.I204I	LPAR4_ENST00000373301.2_Silent_p.I204I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	204						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCAAGATCACAATATTTA	0.408000													19	10					0	0	0.008871	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764688	92764688	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr7:92764688G>A	ENST00000318238.4	-	5	1813	c.597C>T	c.(595-597)ttC>ttT	p.F199F	SAMD9L_ENST00000411955.1_Silent_p.F199F|SAMD9L_ENST00000437805.1_Silent_p.F199F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	199										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGAGCTTTGAACTCATGTA	0.403000													71	90					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179426315	179426315	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:179426315C>T	ENST00000589042.1	-	326	84768	c.84544G>A	c.(84544-84546)Gga>Aga	p.G28182R	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19242R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25614R|TTN_ENST00000460472.2_Missense_Mutation_p.G19117R|TTN_ENST00000342175.6_Missense_Mutation_p.G19309R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26541R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26541	Fibronectin type-III 105.						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)			CGACTTCCTCCATCATTAACT	0.413000													8	35					0	0	0.003080	0	0
RBM47	54502	broad.mit.edu	37	4	40440230	40440230	+	Silent	SNP	G	G	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:40440230G>C	ENST00000319592.4	-	4	1390	c.681C>G	c.(679-681)gcC>gcG	p.A227A	RBM47_ENST00000514014.1_Silent_p.A189A|RBM47_ENST00000295971.7_Silent_p.A227A|RBM47_ENST00000381793.2_Silent_p.A227A|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A227A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	227	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCAGTCCACGGCGATCTGGT	0.647000													15	38					0	0	0.006122	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984495	140984495	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:140984495G>A	ENST00000544766.1	+	5	584	c.57G>A	c.(55-57)ccG>ccA	p.P19P	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Silent_p.P19P|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Silent_p.P19P	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAACCCGAGTGTGACAG	0.517000													29	25					0	0	0.003271	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735856	55735856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:55735856C>T	ENST00000312345.2	-	1	134	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACATCAGGATCATCAAATACA	0.333000													27	40					0	0	0.004656	0	0
GPR98	84059	broad.mit.edu	37	5	89979680	89979680	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr5:89979680T>C	ENST00000405460.2	+	28	6038	c.5942T>C	c.(5941-5943)tTt>tCt	p.F1981S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1981					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)		ATATTCATTTTTTCTGAGAAA	0.403000													12	19					0	0	0.000978	0	0
TET2	54790	broad.mit.edu	37	4	106155143	106155143	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr4:106155143G>T	ENST00000540549.1	+	3	904	c.44G>T	c.(43-45)aGt>aTt	p.S15I	TET2_ENST00000380013.4_Missense_Mutation_p.S15I|TET2_ENST00000413648.2_Missense_Mutation_p.S15I|TET2_ENST00000305737.2_Missense_Mutation_p.S15I|TET2_ENST00000394764.1_Missense_Mutation_p.S15I|TET2_ENST00000513237.1_Missense_Mutation_p.S36I|TET2_ENST00000545826.1_Missense_Mutation_p.S15I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	15					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACAGACTAAGTCCATTCCTG	0.502000			"""Mis N, F"""		MDS								8	29					0.00307968	0.00352989	0.003080	1	0
C9orf135	138255	broad.mit.edu	37	9	72520888	72520888	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:72520888G>A	ENST00000377197.3	+	6	613	c.526G>A	c.(526-528)Gat>Aat	p.D176N	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.M156I	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	176						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CTGTCAAGATGATTATTCCAT	0.328000													26	18					0	0	0.008361	0	0
TEX101	83639	broad.mit.edu	37	19	43922487	43922487	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:43922487C>T	ENST00000602198.1	+	8	1184	c.742C>T	c.(742-744)Cct>Tct	p.P248S	TEX101_ENST00000253435.7_Missense_Mutation_p.P248S|TEX101_ENST00000598265.1_Missense_Mutation_p.P230S|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	230						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TCTTCCCATTCCTGTTTGGGG	0.498000													42	93					0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49754071	49754071	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:49754071C>G	ENST00000304801.3	-	1	982	c.830G>C	c.(829-831)gGt>gCt	p.G277A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	277					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AATCCTTACACCATTCTTTTG	0.438000													36	80					0	0	0.003755	0	0
CNTN2	6900	broad.mit.edu	37	1	205033517	205033517	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:205033517C>T	ENST00000331830.4	+	11	1592	c.1308C>T	c.(1306-1308)atC>atT	p.I436I		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	436	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGGAGAGATCCTTATCCCCT	0.622000													23	148					0	0	0.002299	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632494	111632494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:111632494C>T	ENST00000431670.2	+	3	2075	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	PHLDB2_ENST00000393925.3_Missense_Mutation_p.S555F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S555F|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S141F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S582F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S555F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S555F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	555						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCACCACCATCCTCCACCTTT	0.512000													73	171					0	0	0.003610	0	0
E4F1	1877	broad.mit.edu	37	16	2284185	2284185	+	Silent	SNP	C	C	T	rs113270919		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:2284185C>T	ENST00000301727.4	+	10	1437	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Silent_p.F463F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	463	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGAGGCCGTTCGCCTGCGCGC	0.706000													11	13					0	0	0.000978	0	0
CNTN6	27255	broad.mit.edu	37	3	1424693	1424693	+	Missense_Mutation	SNP	C	C	T	rs147805325	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:1424693C>T	ENST00000446702.2	+	18	2861	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L	CNTN6_ENST00000539053.1_Missense_Mutation_p.S673L|CNTN6_ENST00000350110.2_Missense_Mutation_p.S745L			Q9UQ52	CNTN6_HUMAN	contactin 6	745	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCAGTGGGCTCGACAACCTGG	0.448000													26	47					0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	3443732	3443732	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:3443732C>T	ENST00000602557.1	-	10	1706	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G383E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G384E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G383E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G384E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G383E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G384E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	384	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTTTAGATCCCTGGAGCAC	0.463000													8	25					0	0	0.003080	0	0
FOXA3	3171	broad.mit.edu	37	19	46375568	46375568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:46375568G>A	ENST00000302177.2	+	2	502	c.305G>A	c.(304-306)gGg>gAg	p.G102E		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	102					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CTGGTGCACGGGAAGGAGATG	0.692000													16	30					0	0	0.007413	0	0
FMNL3	91010	broad.mit.edu	37	12	50045807	50045807	+	Silent	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:50045807G>A	ENST00000335154.5	-	14	1745	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D	FMNL3_ENST00000550488.1_Silent_p.D504D|FMNL3_ENST00000352151.5_Silent_p.D453D|FMNL3_ENST00000293590.5_Silent_p.D504D	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	504	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GAGCCAGAAGGTCCAGGTCGG	0.662000													4	10					0	0	0.009096	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825296	43825296	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr12:43825296G>A	ENST00000389420.3	-	22	3099	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L1034F|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.L188F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1034	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTAACAAGGCACTGTAAG	0.368000													32	115					0	0	0.003271	0	0
EYA2	2139	broad.mit.edu	37	20	45717957	45717957	+	Silent	SNP	G	G	A	rs143429707	byFrequency	TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:45717957G>A	ENST00000327619.5	+	8	1115	c.741G>A	c.(739-741)ggG>ggA	p.G247G	EYA2_ENST00000357410.3_Silent_p.G247G|EYA2_ENST00000317304.6_Silent_p.G247G	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	247					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCTCCGACGGGAAGCTCCGAG	0.577000													64	66					0	0	0.003610	0	0
AGTR2	186	broad.mit.edu	37	X	115304175	115304175	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:115304175G>A	ENST00000371906.4	+	3	832	c.642G>A	c.(640-642)atG>atA	p.M214I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	214					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTGCCTTAATGAAAAATATCC	0.373000													30	11					0	0	0.007291	0	0
DNAJC6	9829	broad.mit.edu	37	1	65831742	65831742	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:65831742C>T	ENST00000395325.3	+	4	392	c.235C>T	c.(235-237)Cct>Tct	p.P79S	DNAJC6_ENST00000263441.7_Missense_Mutation_p.P66S|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P136S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	79	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GATGTCCTTTCCTCTGGACAA	0.428000													55	138					0	0	0.003610	0	0
NUGGC	389643	broad.mit.edu	37	8	27917999	27917999	+	Silent	SNP	C	C	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:27917999C>T	ENST00000413272.2	-	8	1183	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	NUGGC_ENST00000341513.6_Silent_p.R347R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GGGCCACGTCCCTACAGAAGC	0.562000											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	25					0	0	0.008291	0	0
SOX7	83595	broad.mit.edu	37	8	10583900	10583900	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr8:10583900G>A	ENST00000304501.1	-	2	593	c.515C>T	c.(514-516)cCc>cTc	p.P172L	SOX7_ENST00000553390.1_Missense_Mutation_p.P224L|SOX7_ENST00000554914.1_Missense_Mutation_p.P224L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	172					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCGGAGGCTGGGCAGGGCAGT	0.731000													10	19					0	0	0.006214	0	0
AGRN	375790	broad.mit.edu	37	1	980604	980626	+	Frame_Shift_Del	DEL	GCTGCCAGGACAATATCACCGCA	GCTGCCAGGACAATATCACCGCA	-	rs141886688		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:980604_980626delGCTGCCAGGACAATATCACCGCA	ENST00000379370.2	+	13	2368_2390	c.2318_2340delGCTGCCAGGACAATATCACCGCA	c.(2317-2340)tfs	p.CCQDNITA773fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	773					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCG	0.686													7	32	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs67226027		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													4	8	---	---	---	---					
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:21936093_21936094insG	ENST00000542643.2	-	16	1347_1348	c.1045_1046insC	c.(1045-1047)cccfs	p.P349fs	RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	349	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634													43	149	---	---	---	---					
CRNN	49860	broad.mit.edu	37	1	152383381	152383381	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr1:152383381delA	ENST00000271835.3	-	3	239	c.177delT	c.(175-177)cgfs	p.R59fs	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	59	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATCCAGCAGACGCAGGACCT	0.537													11	68	---	---	---	---					
NFE2L2	4780	broad.mit.edu	37	2	178095665	178095666	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr2:178095665_178095666insT	ENST00000397062.3	-	5	2219_2220	c.1665_1666insA	c.(1663-1668)aaaactfs	p.T556fs	NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.T540fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.T540fs|NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.T533fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	556					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GTGCTGAGTTGTTTTTTCAGTA	0.361			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			50	125	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	56330206	56330206	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:56330206delA	ENST00000288221.6	-	3	1170	c.915delT	c.(913-915)atfs	p.I305fs		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	305						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAAGTTTTTTAATTGACTCAT	0.478													137	280	---	---	---	---					
PIGX	54965	broad.mit.edu	37	3	196449386	196449386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr3:196449386delC	ENST00000314118.4	+	3	436	c.154delC	c.(154-156)cgfs	p.P52fs	PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000421265.1_Frame_Shift_Del_p.P52fs	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	93					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|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;0.00322)		TTATGTGGATCCGTATGAGTT	0.408													64	126	---	---	---	---					
AK9	221264	broad.mit.edu	37	6	109980446	109980454	+	In_Frame_Del	DEL	CTCTTCTTC	CTCTTCTTC	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr6:109980446_109980454delCTCTTCTTC	ENST00000424296.2	-	7	683_691	c.607_615delGAAGAAGAG	c.(607-615)del	p.EEE203del	AK9_ENST00000368948.2_In_Frame_Del_p.EEE203del|AK9_ENST00000285397.5_In_Frame_Del_p.EEE203del|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		cttcttcttgctcttcttcctcttcttcc	0.359													18	27	---	---	---	---					
KIAA1432	57589	broad.mit.edu	37	9	5772956	5772956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:5772956delC	ENST00000414202.2	+	25	4050	c.3859delC	c.(3859-3861)ttfs	p.L1287fs	KIAA1432_ENST00000418622.3_Frame_Shift_Del_p.L1208fs|KIAA1432_ENST00000449720.2_Frame_Shift_Del_p.L1171fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1287						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCCTGATTCTTAGAGAATC	0.388													21	31	---	---	---	---					
PIP5K1B	8395	broad.mit.edu	37	9	71437594	71437594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr9:71437594delA	ENST00000265382.3	+	4	369	c.64delA	c.(64-66)aafs	p.K23fs	PIP5K1B_ENST00000541509.1_Frame_Shift_Del_p.K23fs|RP11-203L2.4_ENST00000442103.1_RNA	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	23						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAAAACCTATAAAAAGGTGAG	0.393													32	29	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51808214	51808214	+	RNA	DEL	G	G	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:51808214delG	ENST00000456967.1	-	0	1759					NR_038275.1																						CAACTCTGGCGGGGAAAAACC	0.398													11	12	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105752748	105752748	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr10:105752748delA	ENST00000369755.3	+	4	916	c.371delA	c.(370-372)ggfs	p.E124fs	SLK_ENST00000335753.4_Frame_Shift_Del_p.E124fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	124	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATAGAACTTGAGAGACCATTA	0.323													19	28	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85437240	85437241	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr11:85437240_85437241insTT	ENST00000359152.5	-	1	1830_1831	c.1831_1832insAA	c.(1831-1833)aaafs	p.K611fs	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.K87fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.K87fs	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	134	Ser-rich.				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)		CTTTGAATTTAATTTCTCCATT	0.381													32	86	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433													3	3	---	---	---	---					
HNRNPM	4670	broad.mit.edu	37	19	8550606	8550606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:8550606delT	ENST00000348943.3	+	15	1409	c.1177delT	c.(1177-1179)ccfs	p.S393fs	HNRNPM_ENST00000325495.4_Frame_Shift_Del_p.S432fs	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	432	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCGCGTGGGCTCCGAGATCGA	0.706													45	129	---	---	---	---					
GRIK5	2901	broad.mit.edu	37	19	42507603	42507615	+	Splice_Site	DEL	AACCTGGAGGGCG	AACCTGGAGGGCG	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr19:42507603_42507615delAACCTGGAGGGCG	ENST00000262895.3	-	18	2392_2394	c.2392_splice	c.e18-1	p.A798_splice	GRIK5_ENST00000593562.1_Splice_Site_p.A798_splice|GRIK5_ENST00000301218.4_Splice_Site_p.A798_splice	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	798						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCATGCCCAAACCTGGAGGGCGAAGGGAGTTG	0.573													8	73	---	---	---	---					
ZNF335	63925	broad.mit.edu	37	20	44578901	44578912	+	In_Frame_Del	DEL	GGTCTGGGTTGG	GGTCTGGGTTGG	-	rs147383840		TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chr20:44578901_44578912delGGTCTGGGTTGG	ENST00000322927.2	-	22	3533_3544	c.3433_3444delCCAACCCAGACC	c.(3433-3444)del	p.PTQT1145del	ZNF335_ENST00000426788.1_In_Frame_Del_p.PTQT990del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TCAGGATGATGGTCTGGGTTGGGGTCTGGGTA	0.608													21	144	---	---	---	---					
TAF7L	54457	broad.mit.edu	37	X	100547850	100547850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A193-06A-12D-A197-08	TCGA-ER-A193-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d939c477-a01f-4d54-bcfb-c9fdd957f2ec	87ca642a-dd4c-47ea-b81f-2d3402f2157a	g.chrX:100547850delC	ENST00000372907.3	-	1	195	c.184delG	c.(184-186)acfs	p.D62fs	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	62					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTTTGAGTGTCCTCGTCGGCA	0.567													53	33	---	---	---	---					
