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
CDH26	60437	broad.mit.edu	37	20	58567484	58567484	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr20:58567484C>T	ENST00000348616.4	+	10	1635	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	CDH26_ENST00000244047.5_Silent_p.S445S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S445S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACAAAAACTCCGGAGTGGTCA	0.398000													16	21					0	0	0.006122	0	0
PSMD1	5707	broad.mit.edu	37	2	232035369	232035369	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:232035369C>T	ENST00000308696.6	+	24	2967	c.2805C>T	c.(2803-2805)atC>atT	p.I935I	PSMD1_ENST00000373635.4_Silent_p.I904I|PSMD1_ENST00000409643.1_Silent_p.I904I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCCCAAAAATCGAGGAGGAGG	0.473000													26	34					0	0	0.021523	0	0
ATP13A5	344905	broad.mit.edu	37	3	192992869	192992869	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:192992869C>T	ENST00000342358.4	-	30	3736	c.3619G>A	c.(3619-3621)Ggc>Agc	p.G1207S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1207					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGTTGGCCTCCCAATTTG	0.418000													68	75					0	0	0.014410	0	0
TCN2	6948	broad.mit.edu	37	22	31010335	31010335	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:31010335G>A	ENST00000215838.3	+	4	921		c.e4-1		TCN2_ENST00000407817.3_Splice_Site|TCN2_ENST00000405742.3_Splice_Site			P20062	TCO2_HUMAN	transcobalamin II						cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCCCTCTCAGGGCATGATCA	0.612000													15	17					0	0	0.003163	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167745	130167745	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:130167745G>A	ENST00000373371.3	+	9	1286	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.E136E	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	399						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCATGTCAGAGATCTTCCCTC	0.627000													19	31					0	0	0.010504	0	0
PTPRT	11122	broad.mit.edu	37	20	41420038	41420038	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr20:41420038G>T	ENST00000373198.3	-	3	518	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	PTPRT_ENST00000373190.1_Missense_Mutation_p.L95M|PTPRT_ENST00000356100.2_Missense_Mutation_p.L95M|PTPRT_ENST00000373193.3_Missense_Mutation_p.L95M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L95M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L95M|PTPRT_ENST00000373187.1_Missense_Mutation_p.L95M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	95	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCTCCTTCAGGGTTGGCAGG	0.557000													6	29					3.59834e-05	8.08717e-05	0.001168	1	0
C12orf5	57103	broad.mit.edu	37	12	4430444	4430444	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:4430444C>T	ENST00000179259.4	+	1	74	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	3						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GAACATGGCTCGCTTCGCTCT	0.657000													42	35					0	0	0.014410	0	0
C1orf61	10485	broad.mit.edu	37	1	156386582	156386582	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:156386582A>T	ENST00000368243.1	-	3	166	c.50T>A	c.(49-51)cTt>cAt	p.L17H	C1orf61_ENST00000476966.1_Intron	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	17						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AAGCTGGAAAAGGAGGAAGTT	0.463000													61	82					0	0	0.014410	0	0
ZNF714	148206	broad.mit.edu	37	19	21300715	21300715	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:21300715G>C	ENST00000596143.1	+	5	1570	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCAAACATAAGATAATTCATA	0.348000													22	13					0	0	0.012319	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917193	42917193	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:42917193G>A	ENST00000316161.4	-	1	440	c.116C>T	c.(115-117)aCc>aTc	p.T39I	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.T39I|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	39					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGGGCACGGTACCCTTGTC	0.577000													36	33					0	0	0.006230	0	0
HEATR2	54919	broad.mit.edu	37	7	803575	803575	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:803575G>A	ENST00000297440.6	+	8	1767	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	HEATR2_ENST00000313147.5_Missense_Mutation_p.E583K	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	583							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ACACTCGCCGGAGCTCCTGCA	0.667000													45	66					0	0	0.013114	0	0
GRM7	2917	broad.mit.edu	37	3	7456736	7456736	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:7456736A>G	ENST00000486284.1	+	5	1334	c.1060A>G	c.(1060-1062)Aca>Gca	p.T354A	GRM7_ENST00000402647.2_Missense_Mutation_p.T354A|GRM7_ENST00000403881.1_Missense_Mutation_p.T354A|GRM7_ENST00000389336.4_Missense_Mutation_p.T354A|GRM7_ENST00000357716.4_Missense_Mutation_p.T354A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	354					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)	TACGTCCCGTACACTTGAAAA	0.398000													3	36					0	0	0.004672	0	0
TRPM6	140803	broad.mit.edu	37	9	77416982	77416982	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:77416982C>A	ENST00000451710.3	-	16	2078	c.1841G>T	c.(1840-1842)tGg>tTg	p.W614L	TRPM6_ENST00000360774.1_Missense_Mutation_p.W614L|TRPM6_ENST00000376864.4_Missense_Mutation_p.W614L|TRPM6_ENST00000449912.2_Missense_Mutation_p.W609L|TRPM6_ENST00000361255.3_Missense_Mutation_p.W609L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	614					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGCACAGCCCAAACCAGCAG	0.463000													14	24					3.27435e-08	7.43412e-08	0.020292	1	0
KIF3B	9371	broad.mit.edu	37	20	30918011	30918011	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr20:30918011C>T	ENST00000375712.3	+	8	2203	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	KIF3B_ENST00000418717.2_Missense_Mutation_p.A305V	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	679	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGGTCCAGCCATTGCCCCC	0.517000													18	23					0	0	0.004990	0	0
DCHS1	8642	broad.mit.edu	37	11	6648741	6648741	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:6648741C>T	ENST00000299441.3	-	14	5940	c.5529G>A	c.(5527-5529)gtG>gtA	p.V1843V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1843	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACTGTCACTGTCAAAA	0.617000													8	11					0	0	0.004482	0	0
SLC19A2	10560	broad.mit.edu	37	1	169435090	169435090	+	Silent	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:169435090T>C	ENST00000236137.5	-	6	1727	c.1491A>G	c.(1489-1491)tcA>tcG	p.S497S	SLC19A2_ENST00000367802.3_Silent_p.S459S|SLC19A2_ENST00000367804.3_Silent_p.S296S	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	497					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CAGTATATTATGAAGTGGTTA	0.403000													4	86					0	0	0.014758	0	0
GLI2	2736	broad.mit.edu	37	2	121726377	121726377	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:121726377A>G	ENST00000452319.1	+	6	791	c.731A>G	c.(730-732)gAc>gGc	p.D244G	GLI2_ENST00000361492.4_Missense_Mutation_p.D244G|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	244					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)				GCCAGCCTGGACCTGCAGCGG	0.652000													10	76					0	0	0.013537	0	0
FAM13C	220965	broad.mit.edu	37	10	61011251	61011251	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr10:61011251C>T	ENST00000435852.2	-	13	1765	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000442566.3_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAAAAGTCACCGTTCCTGCAA	0.358000													37	3					0	0	0.015359	0	0
FCRL3	115352	broad.mit.edu	37	1	157660321	157660321	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:157660321G>A	ENST00000368184.3	-	9	1705	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.P472S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	472						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CGAGACACCGGAACTGAGGGA	0.537000													30	36					0	0	0.009535	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130518	38130518	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:38130518C>T	ENST00000406386.3	+	9	4430	c.4175C>T	c.(4174-4176)tCc>tTc	p.S1392F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1392					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)					CTCCAGGGGTCCCCGCTGCCC	0.657000													8	19					0	0	0.004482	0	0
C1orf168	199920	broad.mit.edu	37	1	57189292	57189292	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:57189292C>G	ENST00000343433.6	-	17	2023	c.1943G>C	c.(1942-1944)aGa>aCa	p.R648T		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	648										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						TTTTTCTTCTCTTTTCATTCT	0.308000													13	11					0	0	0.013537	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613329	121613329	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:121613329T>A	ENST00000489711.1	+	1	394	c.6T>A	c.(4-6)aaT>aaA	p.N2K	SLC15A2_ENST00000295605.2_Missense_Mutation_p.N2K	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	2					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAGCCATGAATCCTTTCCAGA	0.498000													8	125					0	0	0.003080	0	0
SNTB2	6645	broad.mit.edu	37	16	69294068	69294068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:69294068C>T	ENST00000336278.4	+	3	948	c.910C>T	c.(910-912)Cca>Tca	p.P304S	SNTB2_ENST00000528525.1_Intron	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	304						cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGCTCTCCTCCCACAGGTGTT	0.527000													40	56					0	0	0.006230	0	0
PMFBP1	83449	broad.mit.edu	37	16	72173222	72173222	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:72173222G>A	ENST00000537465.1	-	7	1042	c.884C>T	c.(883-885)cCt>cTt	p.P295L	PMFBP1_ENST00000237353.10_Missense_Mutation_p.P295L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	295										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGAGGAGCTAGGAGGGTATCT	0.468000													32	38					0	0	0.019004	0	0
ACTR3C	653857	broad.mit.edu	37	7	149990406	149990406	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:149990406G>A	ENST00000539352.1	-	3	399	c.148C>T	c.(148-150)Cca>Tca	p.P50S	ACTR3C_ENST00000252071.4_Missense_Mutation_p.P50S	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	50					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										CTTACCACTGGGATAACATGG	0.423000													5	7					0	0	0.003080	0	0
CDHR4	389118	broad.mit.edu	37	3	49836822	49836822	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:49836822G>A	ENST00000412678.2	-	2	106	c.98C>T	c.(97-99)cCt>cTt	p.P33L	CDHR4_ENST00000487256.1_Missense_Mutation_p.P33L|CDHR4_ENST00000343366.4_Missense_Mutation_p.P33L	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	33					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GACTGTGCCAGGGCCCTGGCT	0.557000													11	9					0	0	0.010729	0	0
RNF17	56163	broad.mit.edu	37	13	25453355	25453355	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:25453355T>C	ENST00000255324.5	+	35	4856	c.4804T>C	c.(4804-4806)Tat>Cat	p.Y1602H	RNF17_ENST00000381921.1_Missense_Mutation_p.Y1560H|RNF17_ENST00000339524.3_Missense_Mutation_p.Y612H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1602					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGTGACATTATATGACGATGA	0.393000													3	22					0	0	0.004672	0	0
PTEN	5728	broad.mit.edu	37	10	89711916	89711916	+	Nonsense_Mutation	SNP	T	T	A	rs104894184		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr10:89711916T>A	ENST00000371953.3	+	6	1891	c.534T>A	c.(532-534)taT>taA	p.Y178*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	178	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y178*(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTATTATTATAGCTACCTGT	0.368000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			6	57					0	0	0.001168	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049071	42049071	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:42049071C>T	ENST00000372584.1	-	3	2412	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	HIVEP3_ENST00000372583.1_Silent_p.T466T|HIVEP3_ENST00000429157.2_Silent_p.T466T|HIVEP3_ENST00000247584.5_Silent_p.T466T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	466	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				TGATGAGCTTCGTGATGTGCT	0.637000													29	37					0	0	0.008361	0	0
PI4KA	5297	broad.mit.edu	37	22	21174134	21174134	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:21174134C>G	ENST00000255882.6	-	6	670	c.584G>C	c.(583-585)gGg>gCg	p.G195A	PI4KA_ENST00000572273.1_Missense_Mutation_p.G137A	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	137					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTGTAACGCCCAAATGCTCG	0.448000													61	97					0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			57	77					2.40265e-35	5.5978e-35	0.014410	1	0
NRXN3	9369	broad.mit.edu	37	14	79181157	79181157	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:79181157C>T	ENST00000554719.1	+	5	1091	c.600C>T	c.(598-600)atC>atT	p.I200I	NRXN3_ENST00000335750.5_Silent_p.I200I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	206	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGAGCGAGATCCTGGACCTGG	0.587000													64	68					0	0	0.014410	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773460	137773460	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:137773460G>A	ENST00000242375.3	+	2	249	c.207G>A	c.(205-207)agG>agA	p.R69R	AKR1D1_ENST00000411726.2_Silent_p.R69R|AKR1D1_ENST00000432161.1_Silent_p.R69R|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	69					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGCCATCAGGGAGAAGATAG	0.502000													12	12					0	0	0.010729	0	0
KIF13B	23303	broad.mit.edu	37	8	29033614	29033614	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:29033614G>A	ENST00000524189.1	-	10	954	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	KIF13B_ENST00000521515.1_Missense_Mutation_p.R306C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	306					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACTGAGTCACGATATGGAACA	0.433000													12	2					0	0	0.010729	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490296	150490296	+	Silent	SNP	G	G	A	rs148000953		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:150490296G>A	ENST00000447204.2	-	5	852	c.480C>T	c.(478-480)atC>atT	p.I160I	TMEM176B_ENST00000429904.2_Silent_p.I160I|TMEM176B_ENST00000326442.5_Silent_p.I160I|TMEM176B_ENST00000492607.1_Silent_p.I160I|TMEM176B_ENST00000450753.2_Silent_p.I123I|TMEM176B_ENST00000434545.1_Silent_p.I160I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	160					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAGTGTCGATGTATAAAA	0.517000													35	50					0	0	0.017118	0	0
MKL1	57591	broad.mit.edu	37	22	40820310	40820310	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:40820310T>C	ENST00000396617.3	-	8	967	c.377A>G	c.(376-378)gAg>gGg	p.E126G	MKL1_ENST00000402042.1_Missense_Mutation_p.E126G|MKL1_ENST00000407029.1_Missense_Mutation_p.E126G|MKL1_ENST00000355630.3_Missense_Mutation_p.E126G			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	126	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCAGGCTGCTCGGGGGATAA	0.602000			T	RBM15	acute megakaryocytic leukemia								4	74					0	0	0.014758	0	0
CFAP221	200373	broad.mit.edu	37	2	120388367	120388367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:120388367C>T	ENST00000602047.1	+	20	2118	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F	PCDP1_ENST00000413369.3_Missense_Mutation_p.L622F			Q4G0U5	PCDP1_HUMAN		622						cilium	calmodulin binding					Colorectal(110;0.196)					CATCACAGCCCTTCCGAAACA	0.468000													49	46					0	0	0.014410	0	0
OR51T1	401665	broad.mit.edu	37	11	4904098	4904098	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:4904098G>A	ENST00000380378.1	+	1	1050	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.R323R|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	323					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)		GGGGTCTTAGGGGAAGATGGG	0.468000													18	31					0	0	0.006122	0	0
SLAMF8	56833	broad.mit.edu	37	1	159804974	159804974	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:159804974G>A	ENST00000289707.5	+	5	931	c.781_splice	c.e5-1	p.G261_splice	C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000368104.4_Splice_Site_p.G152_splice|SLAMF8_ENST00000471286.1_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	261						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCCTTACCAGGGAAAAAGAAA	0.498000													18	33					0	0	0.007413	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111300	95111300	+	RNA	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:95111300C>T	ENST00000469935.1	+	0	1120					NR_015340.1																						GCAGAGAACTCGATTTCCACT	0.557000													13	4					0	0	0.003163	0	0
USP37	57695	broad.mit.edu	37	2	219394755	219394755	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:219394755G>A	ENST00000258399.3	-	10	1199	c.787C>T	c.(787-789)Cct>Tct	p.P263S	USP37_ENST00000454775.1_Missense_Mutation_p.P263S|USP37_ENST00000418019.1_Missense_Mutation_p.P263S|USP37_ENST00000415516.1_Missense_Mutation_p.P191S|USP37_ENST00000338465.5_Missense_Mutation_p.P263S	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	263					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)		GACTGTAAAGGTAAAAGCCCT	0.328000													24	26					0	0	0.007291	0	0
SSX9	280660	broad.mit.edu	37	X	48159108	48159108	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:48159108G>T	ENST00000376909.1	-	6	487	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	SSX9_ENST00000407081.2_Missense_Mutation_p.P142Q																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TGGTTTTCCCGGGGGGCACAG	0.488000													130	6					1.28113e-61	3.00053e-61	0.014410	1	0
FSIP2	401024	broad.mit.edu	37	2	186672961	186672961	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:186672961G>A	ENST00000343098.5	+	17	19195	c.19195G>A	c.(19195-19197)Gaa>Aaa	p.E6399K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6310K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCAAATTCAGAATTAGTTCT	0.318000													23	37					0	0	0.012319	0	0
ASTN1	460	broad.mit.edu	37	1	176915229	176915229	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:176915229C>T	ENST00000367654.2	-	13	2119	c.2106G>A	c.(2104-2106)gtG>gtA	p.V702V	ASTN1_ENST00000367657.3_Silent_p.V694V|ASTN1_ENST00000424564.2_Silent_p.V694V|ASTN1_ENST00000361833.2_Silent_p.V694V|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	702	EGF-like 3.				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						AGCGTCCATCCACACCAAGCT	0.517000													38	10					0	0	0.008740	0	0
BANK1	55024	broad.mit.edu	37	4	102750985	102750985	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:102750985A>T	ENST00000504592.1	+	6	464	c.46A>T	c.(46-48)Atg>Ttg	p.M16L	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000322953.4_Missense_Mutation_p.M31L|BANK1_ENST00000444316.2_Start_Codon_SNP_p.M1L|BANK1_ENST00000508653.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	31	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGATATAATAATGATATATGA	0.294000													10	14					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179437711	179437711	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179437711G>A	ENST00000589042.1	-	326	73372	c.73148C>T	c.(73147-73149)tCg>tTg	p.S24383L	TTN_ENST00000359218.5_Missense_Mutation_p.S15443L|TTN_ENST00000342992.6_Missense_Mutation_p.S21815L|TTN_ENST00000342175.6_Missense_Mutation_p.S15510L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15318L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22742L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22742	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15443*(1)|p.S15318*(1)|p.S21813*(1)|p.S15510*(1)|p.S21815*(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)			GATAGTATACGAAGTTGCCTT	0.483000													14	13					0	0	0.020292	0	0
SUGP1	57794	broad.mit.edu	37	19	19427294	19427294	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:19427294G>A	ENST00000247001.5	-	2	490	c.143C>T	c.(142-144)gCc>gTc	p.A48V	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.A48V	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	48					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						TTCCATTTTGGCTTCAATTTC	0.537000													29	42					0	0	0.009535	0	0
SDK2	54549	broad.mit.edu	37	17	71348681	71348681	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr17:71348681C>T	ENST00000392650.3	-	41	5689	c.5689G>A	c.(5689-5691)Gac>Aac	p.D1897N	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.D1878N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1897	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCCGGAAGTCATAGCTCACG	0.612000													33	12					0	0	0.015359	0	0
XIRP2	129446	broad.mit.edu	37	2	167760325	167760325	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:167760325C>T	ENST00000409195.1	+	2	422	c.333C>T	c.(331-333)tcC>tcT	p.S111S	XIRP2_ENST00000409756.2_Silent_p.S111S|XIRP2_ENST00000420519.1_Silent_p.S111S|XIRP2_ENST00000409728.1_Silent_p.S111S|XIRP2_ENST00000409043.1_Silent_p.S111S|XIRP2_ENST00000295237.9_Silent_p.S111S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						AACGCTTTTCCATTGCCCTTG	0.502000													46	37					0	0	0.014410	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189147	140189147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr5:140189147C>T	ENST00000530339.1	+	1	2375	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S792F|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S792F|PCDHA3_ENST00000522353.2_Intron	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)			ACTGAGGAATCCTTTGCAAAG	0.423000													39	8					0	0	0.010771	0	0
TTN	7273	broad.mit.edu	37	2	179628974	179628974	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179628974G>A	ENST00000589042.1	-	43	10268	c.10044C>T	c.(10042-10044)atC>atT	p.I3348I	TTN_ENST00000359218.5_Silent_p.I3302I|TTN_ENST00000342992.6_Silent_p.I3348I|TTN_ENST00000342175.6_Silent_p.I3302I|TTN_ENST00000360870.5_Silent_p.I3348I|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I3302I|TTN_ENST00000591111.1_Silent_p.I3348I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3063	Ig-like 20.						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)			GAAGCGGGGTGATGATGGCAG	0.463000													37	30					0	0	0.017118	0	0
MFGE8	4240	broad.mit.edu	37	15	89449881	89449881	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:89449881G>A	ENST00000539437.1	-	5	628	c.492C>T	c.(490-492)atC>atT	p.I164I	MFGE8_ENST00000268150.8_Silent_p.I172I|MFGE8_ENST00000542878.1_Silent_p.I128I|MFGE8_ENST00000566497.1_Silent_p.I172I|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Silent_p.I172I			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	172	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TAACATCATGGATGAAATCGA	0.522000													45	56					0	0	0.014410	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220169	13220169	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:13220169G>A	ENST00000197268.8	+	7	1201	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	361						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCTGCAGATAGAAGAGCCAGA	0.483000													40	61					0	0	0.006230	0	0
TICAM1	148022	broad.mit.edu	37	19	4817600	4817600	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:4817600G>A	ENST00000248244.5	-	2	1019	c.790C>T	c.(790-792)Cca>Tca	p.P264S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	264	Pro-rich.				apoptosis|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|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGCTCTGGTGGGCTGGCAATC	0.677000													16	36					0	0	0.003163	0	0
ASCL3	56676	broad.mit.edu	37	11	8959256	8959256	+	Silent	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:8959256A>G	ENST00000325884.1	-	2	512	c.453T>C	c.(451-453)ccT>ccC	p.P151P	ASCL3_ENST00000531618.1_Silent_p.P151P	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	150					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CAGCTTTATCAGGGTACAGAA	0.463000													4	114					0	0	0.014758	0	0
BMP15	9210	broad.mit.edu	37	X	50659304	50659304	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:50659304C>T	ENST00000252677.3	+	2	876	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	292					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					ACCAGTGTTCCCTCCACCCTT	0.512000													47	5					0	0	0.014410	0	0
EPHB3	2049	broad.mit.edu	37	3	184293659	184293659	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:184293659C>T	ENST00000330394.2	+	4	1350	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	300	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGAGAGGGGCCCTGCCTCCC	0.632000													40	36					0	0	0.021022	0	0
OR13C3	138803	broad.mit.edu	37	9	107298467	107298467	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:107298467C>T	ENST00000374781.2	-	1	670	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCTAATATTTCACATGCGAAA	0.423000													53	65					0	0	0.014410	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459952	107459952	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:107459952C>T	ENST00000409382.3	-	2	1092	c.482G>A	c.(481-483)gGg>gAg	p.G161E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G161E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G161E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	161					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						CGGAAAAGCCCCCTCCCGTGG	0.647000													94	79					0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22939400	22939400	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:22939400G>A	ENST00000397104.3	-	7	2770	c.2771C>T	c.(2770-2772)gCt>gTt	p.A924V						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)				TTGCTTAAAAGCTTTGCCACA	0.368000													17	20					0	0	0.006122	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013454	73013454	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:73013454G>A	ENST00000308744.6	+	4	1592	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	NPFFR2_ENST00000395999.1_Silent_p.R399R|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.R396R|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	498					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)			TGCTTTATAGGAAAAGTGCTG	0.373000													33	59					0	0	0.017118	0	0
SFI1	9814	broad.mit.edu	37	22	31942914	31942914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:31942914C>T	ENST00000432498.1	+	5	799	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	SFI1_ENST00000400288.2_Nonsense_Mutation_p.Q136*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.Q54*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.Q112*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	136					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTGGGTTTTCCAGCACGAGTG	0.393000													51	67					0	0	0.014410	0	0
CFHR2	3080	broad.mit.edu	37	1	196928177	196928177	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:196928177G>A	ENST00000367415.4	+	5	894	c.780G>A	c.(778-780)ggG>ggA	p.G260G	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.G260G	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	260	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTCAGAATGGGAAACTGGTAT	0.303000													35	11					0	0	0.021022	0	0
CDH15	1013	broad.mit.edu	37	16	89260307	89260307	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:89260307G>A	ENST00000289746.2	+	13	2202	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	713					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGACATCGCCGACTTCATCAA	0.647000													14	20					0	0	0.020292	0	0
ABCA13	154664	broad.mit.edu	37	7	48317732	48317732	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:48317732A>G	ENST00000435803.1	+	18	6965	c.6941A>G	c.(6940-6942)gAt>gGt	p.D2314G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2314					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGAAACTGGATCAATTTCTT	0.239000													8	9					0	0	0.003080	0	0
LRIF1	55791	broad.mit.edu	37	1	111494240	111494240	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:111494240G>A	ENST00000369763.4	-	2	1656	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTCCATCTGGGAAGATTTAC	0.408000													91	95					0	0	0.014410	0	0
HPS3	84343	broad.mit.edu	37	3	148889998	148889998	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:148889998C>T	ENST00000296051.2	+	17	3144	c.3004C>T	c.(3004-3006)Cca>Tca	p.P1002S	HPS3_ENST00000460120.1_Missense_Mutation_p.P837S	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	1002						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)			TCGAAAGAAACCATTGACTTA	0.338000									Hermansky-Pudlak syndrome				7	17					0	0	0.003080	0	0
ABL1	25	broad.mit.edu	37	9	133759967	133759967	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:133759967C>G	ENST00000318560.5	+	11	2671	c.2290C>G	c.(2290-2292)Cgg>Ggg	p.R764G		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	764					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GGCTCTGCCTCGGAAGAGGGC	0.587000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								22	44					0	0	0.010504	0	0
SDHAP1	255812	broad.mit.edu	37	3	195710993	195710993	+	RNA	SNP	A	A	G	rs4927692	by1000genomes	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:195710993A>G	ENST00000427841.1	-	0	739					NR_003264.2																						CCTCCCGTATAAGGTGTGCAA	0.617000													3	22					0	0	0.014758	0	0
NDFIP2	54602	broad.mit.edu	37	13	80125153	80125153	+	Splice_Site	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:80125153C>T	ENST00000218652.7	+	7	961	c.907_splice	c.e7-1	p.G303_splice		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	303					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CCTTCTCAGGCCTGCTCCTTT	0.323000													67	118					0	0	0.014410	0	0
GP2	2813	broad.mit.edu	37	16	20329728	20329728	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:20329728C>T	ENST00000302555.5	-	7	1181	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.G347G|GP2_ENST00000381360.5_Silent_p.G200G|GP2_ENST00000341642.5_Silent_p.G197G			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	347	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACTCTCCATTCCCGTCCACAC	0.473000													91	101					0	0	0.014410	0	0
MIIP	60672	broad.mit.edu	37	1	12091449	12091449	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:12091449C>T	ENST00000235332.4	+	9	1238	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	MIIP_ENST00000436478.2_Silent_p.A324A|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	357										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CACCAGCAGCCCTTTTCACCC	0.647000													43	4					0	0	0.014410	0	0
CCDC144A	9720	broad.mit.edu	37	17	16665012	16665012	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr17:16665012G>A	ENST00000443444.2	+	13	3786	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K	CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1216K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E1216K|CCDC144A_ENST00000456009.1_Missense_Mutation_p.E982K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1216K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1216																	AAAATTAAACGAAGCCATTCT	0.323000													17	3					0	0	0.005443	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662562	662562	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:662562C>T	ENST00000266383.5	+	14	1486	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	491						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCCTTCTCCAAGCGGAACT	0.642000													38	54					0	0	0.019004	0	0
AGAP2	116986	broad.mit.edu	37	12	58121793	58121793	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:58121793C>A	ENST00000257897.3	-	14	1710	c.1625G>T	c.(1624-1626)cGg>cTg	p.R542L	AGAP2_ENST00000547588.1_Missense_Mutation_p.R898L|AGAP2-AS1_ENST00000542466.2_3'UTR	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	898	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCAGGCATCCCGCTCCTCAAA	0.562000													8	321					0.00448238	0.00992368	0.004482	1	0
OR4S2	219431	broad.mit.edu	37	11	55419000	55419000	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:55419000G>A	ENST00000312422.2	+	1	621	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTGCTCTGGGGAGTTTTGTTA	0.483000													64	11					0	0	0.014410	0	0
NPC1	4864	broad.mit.edu	37	18	21140301	21140301	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr18:21140301G>A	ENST00000269228.5	-	6	1329	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	NPC1_ENST00000412552.2_5'UTR|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	259	Poly-Pro.				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)					ATCGTCCAGGGAGCAGGAGGA	0.537000													26	44					0	0	0.021523	0	0
CFAP54	144535	broad.mit.edu	37	12	97137677	97137677	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:97137677C>T	ENST00000524981.3	+	21	2899	c.2899C>T	c.(2899-2901)Cta>Tta	p.L967L				Q6ZTY8	CL063_HUMAN		941										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCATAGCATTCTAACTGAACA	0.383000													28	9					0	0	0.009535	0	0
NOBOX	135935	broad.mit.edu	37	7	144097383	144097383	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:144097383C>T	ENST00000467773.1	-	5	866	c.867G>A	c.(865-867)aaG>aaA	p.K289K	NOBOX_ENST00000223140.5_Silent_p.K204K|NOBOX_ENST00000483238.1_Silent_p.K289K	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	289					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTGGAATATCTTCTCTAGCT	0.522000													31	47					0	0	0.012213	0	0
APBB2	323	broad.mit.edu	37	4	40947069	40947069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:40947069G>T	ENST00000295974.8	-	7	1483	c.854C>A	c.(853-855)tCa>tAa	p.S285*	APBB2_ENST00000508593.1_Nonsense_Mutation_p.S286*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.S285*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.S285*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	285					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTCTGAAATGAGTGATCACT	0.478000													36	43					6.02846e-25	1.38998e-24	0.015359	1	0
OR4N2	390429	broad.mit.edu	37	14	20295728	20295728	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:20295728G>A	ENST00000568211.1	+	1	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41R			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCCTCCCTGGAAATTTTCT	0.443000													111	254					0	0	0.014410	0	0
HSD17B11	51170	broad.mit.edu	37	4	88258515	88258515	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:88258515G>A	ENST00000358290.4	-	7	1131	c.816C>T	c.(814-816)atC>atT	p.I272I	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Silent_p.I228I	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	272					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GCTCAGGAAGGATCCTAAAAG	0.294000													32	43					0	0	0.010818	0	0
PIK3R4	30849	broad.mit.edu	37	3	130422672	130422672	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:130422672C>T	ENST00000356763.3	-	13	3550	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	998					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						GACTCTAATTCGATTCACAGC	0.413000													53	59					0	0	0.014410	0	0
ZNF714	148206	broad.mit.edu	37	19	21300565	21300565	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:21300565G>A	ENST00000596143.1	+	5	1420	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATACTGGAGAGAAACCCTACA	0.368000													13	15					0	0	0.016723	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427607	197427607	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:197427607G>A	ENST00000273582.5	-	7	1503	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	KIAA0226_ENST00000389665.5_Silent_p.L380L|KIAA0226_ENST00000296343.5_Silent_p.L380L|KIAA0226_ENST00000449205.1_Silent_p.L380L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	380	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACACTGGACAGCTGGCTCTCC	0.577000													18	34					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:9089213C>T	ENST00000397910.4	-	1	2805	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	868	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						TTCGAAGTTTCCTCTGTTTCT	0.478000													23	32					0	0	0.014323	0	0
SGSM3	27352	broad.mit.edu	37	22	40803207	40803207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:40803207G>T	ENST00000248929.9	+	12	1432	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*	SGSM3_ENST00000454798.2_Nonsense_Mutation_p.E348*	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	415					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCTCCTAGGGGAGGATGACCT	0.632000													22	29					9.95505e-16	2.2835e-15	0.014323	1	0
RIPK4	54101	broad.mit.edu	37	21	43162114	43162114	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr21:43162114G>A	ENST00000352483.2	-	9	1447	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	RIPK4_ENST00000544709.1_Silent_p.A350A|RIPK4_ENST00000332512.3_Silent_p.A413A|RIPK4_ENST00000542057.1_Silent_p.A350A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	413						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGGACACGATGGCATCCACAA	0.627000													97	104					0	0	0.014410	0	0
ZNF544	27300	broad.mit.edu	37	19	58773811	58773811	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:58773811C>T	ENST00000269829.4	+	7	2313	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Silent_p.F585F|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Silent_p.F585F|ZNF544_ENST00000596652.1_Silent_p.F613F|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Silent_p.F471F|ZNF544_ENST00000600044.1_Silent_p.F585F|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAAAAGCCTTCAATCGAAGCA	0.453000													45	54					0	0	0.014410	0	0
RAET1K	646024	broad.mit.edu	37	6	150322321	150322321	+	RNA	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:150322321C>T	ENST00000533735.1	-	0	555					NR_024045.1																						CCCCACCCTGCTTCCTTTCCT	0.512000													6	2					0	0	0.001168	0	0
CENPU	79682	broad.mit.edu	37	4	185621975	185621975	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:185621975G>A	ENST00000281453.5	-	11	1055	c.986_splice	c.e11+1	p.R329_splice	MLF1IP_ENST00000506535.1_Intron|MLF1IP_ENST00000541971.1_Splice_Site_p.R329_splice	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		329					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTATCTTACCGAAGCAGTTCA	0.363000													39	65					0	0	0.010771	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656313	40656313	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:40656313G>A	ENST00000406785.1	-	2	1297	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	SLC8A1_ENST00000405269.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R370C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R370C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R370C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R370C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	370					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R370S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCATGAGGCGAGTAGCTTGA	0.428000													46	63					0	0	0.014410	0	0
BMP10	27302	broad.mit.edu	37	2	69093611	69093611	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:69093611C>T	ENST00000295379.1	-	2	585	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	143				A -> T (in Ref. 3; AAH69080).	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						CTAAGTTCAGCCATGATGACC	0.453000													21	28					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179472337	179472337	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179472337G>A	ENST00000589042.1	-	277	53302	c.53078C>T	c.(53077-53079)cCa>cTa	p.P17693L	TTN_ENST00000359218.5_Missense_Mutation_p.P8753L|TTN_ENST00000342992.6_Missense_Mutation_p.P15125L|TTN_ENST00000342175.6_Missense_Mutation_p.P8820L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8628L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P16052L|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16052	Fibronectin type-III 28.						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)			CACCACAGCTGGAATTCTAAG	0.458000													112	145					0	0	0.014410	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988200	92988200	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:92988200G>A	ENST00000523629.1	-	10	1735	c.1279_splice	c.e10-1	p.D427_splice	RUNX1T1_ENST00000518844.1_Splice_Site_p.D400_splice|RUNX1T1_ENST00000520724.1_Splice_Site_p.D390_splice|RUNX1T1_ENST00000436581.2_Splice_Site_p.D438_splice|RUNX1T1_ENST00000396218.1_Splice_Site_p.D400_splice|RUNX1T1_ENST00000265814.3_Splice_Site_p.D427_splice|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000360348.2_Splice_Site_p.D390_splice|RUNX1T1_ENST00000422361.2_Splice_Site_p.D390_splice	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)	427				D -> G (in Ref. 2; AAC26143).	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)			CCCGATGCGCGTCTATGAAAA	0.483000													7	173					0	0	0.003080	0	0
C4B	721	broad.mit.edu	37	6	31997061	31997061	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:31997061G>A	ENST00000435363.2	+	28	3706	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N	C4B_ENST00000425700.2_Missense_Mutation_p.D1208N	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1208					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGCCCCTGCGGACCTGCGGGG	0.647000													30	36					0	0	0.009535	0	0
TRPC4	7223	broad.mit.edu	37	13	38266172	38266172	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:38266172T>C	ENST00000379705.3	-	4	2055	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	TRPC4_ENST00000355779.2_Missense_Mutation_p.T400A|TRPC4_ENST00000338947.5_Missense_Mutation_p.T227A|TRPC4_ENST00000379673.2_Missense_Mutation_p.T400A|TRPC4_ENST00000379679.1_Missense_Mutation_p.T227A|TRPC4_ENST00000426868.2_Missense_Mutation_p.T400A|TRPC4_ENST00000379681.3_Missense_Mutation_p.T400A|TRPC4_ENST00000358477.2_Missense_Mutation_p.T400A|TRPC4_ENST00000447043.1_Missense_Mutation_p.T400A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	400					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)		TCGACGATGGTTGGTGGTGGA	0.453000													36	34					0	0	0.006230	0	0
RNA5-8SP2	100873571	broad.mit.edu	37	16	33965518	33965518	+	RNA	SNP	G	G	A	rs483066		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:33965518G>A	ENST00000363564.1	+	0	93																											ATTGATCATCGACACTTCGAA	0.557000													12	16					0	0	0.016723	0	0
BMX	660	broad.mit.edu	37	X	15540574	15540574	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:15540574C>G	ENST00000357607.2	+	7	804	c.616C>G	c.(616-618)Cca>Gca	p.P206A	BMX_ENST00000342014.6_Missense_Mutation_p.P206A|BMX_ENST00000348343.6_Missense_Mutation_p.P206A			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	206					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGGCTCCCAGCCACCATCTTC	0.443000													4	70					0	0	0.009096	0	0
MESDC2	23184	broad.mit.edu	37	15	81271781	81271781	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:81271781G>A	ENST00000261758.4	-	3	570	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	162	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CTCCCATCGCGAAGCATGAAG	0.547000													17	28					0	0	0.006122	0	0
FLRT2	23768	broad.mit.edu	37	14	86089781	86089781	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:86089781C>T	ENST00000330753.4	+	2	2690	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	FLRT2_ENST00000554746.1_Silent_p.I641I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	641					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACTGCCATATCCCCAACAACA	0.493000													140	191					0	0	0.014410	0	0
AKAP6	9472	broad.mit.edu	37	14	33015958	33015958	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:33015958C>T	ENST00000280979.4	+	4	2269	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	AKAP6_ENST00000557354.1_Missense_Mutation_p.S700L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S700L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	700					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)		TCTCCAAGCTCATCTAGTGAC	0.468000													28	34					0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767673	77767673	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:77767673C>T	ENST00000521891.2	+	10	8964	c.8516C>T	c.(8515-8517)cCc>cTc	p.P2839L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2794L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2813L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2794L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2794						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)			GCTTTGTCTCCCAAAGAGCCA	0.498000										HNSCC(33;0.089)			21	29					0	0	0.012319	0	0
CES1	1066	broad.mit.edu	37	16	55857517	55857517	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:55857517C>T	ENST00000422046.2	-	4	762	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.E162K|CES1_ENST00000361503.4_Missense_Mutation_p.E161K			P23141	EST1_HUMAN	carboxylesterase 1	161					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ACCACGTTTTCATGGGCAGCA	0.567000													16	68					0	0	0.007413	0	0
GBA3	57733	broad.mit.edu	37	4	22749054	22749054	+	RNA	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:22749054C>T	ENST00000508166.1	+	0	524				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_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						ATCATTGAATCCTTTGACAAA	0.408000													51	64					0	0	0.014410	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357183	89357183	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:89357183G>A	ENST00000301030.4	-	6	911	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P151S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	151						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCAGAGTTGGGCGTTCCCTTC	0.592000													47	53					0	0	0.014410	0	0
GHR	2690	broad.mit.edu	37	5	42695075	42695075	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr5:42695075G>A	ENST00000230882.4	+	5	513	c.323G>A	c.(322-324)gGg>gAg	p.G108E	GHR_ENST00000357703.3_Missense_Mutation_p.G86E|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	108					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTTCTGCTGGGGAAAACAGC	0.358000													15	2					0	0	0.003163	0	0
GDA	9615	broad.mit.edu	37	9	74817548	74817548	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:74817548G>A	ENST00000358399.3	+	3	367	c.274G>A	c.(274-276)Gga>Aga	p.G92R	GDA_ENST00000376986.1_Missense_Mutation_p.G50R|GDA_ENST00000545168.1_Missense_Mutation_p.G18R|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.G67R|GDA_ENST00000238018.4_Missense_Mutation_p.G92R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	92					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TTCCTTTGCTGGAAGTAGCAT	0.413000													47	56					0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10470689	10470689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:10470689C>T	ENST00000382483.3	-	4	1142	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	307					intracellular signal transduction			p.D307N(1)		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)		TTCATGTCATCGCCAGCCACC	0.647000													75	8					0	0	0.014410	0	0
CPZ	8532	broad.mit.edu	37	4	8621281	8621281	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:8621281C>T	ENST00000429646.2	+	9	3513	c.720C>T	c.(718-720)ccC>ccT	p.P240P	CPZ_ENST00000315782.6_Silent_p.P621P|CPZ_ENST00000360986.4_Silent_p.P632P|CPZ_ENST00000382480.2_Silent_p.P495P			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	632					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGTAAGCCCTGGTGGTGGT	0.706000													26	27					0	0	0.008361	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148791	103148791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:103148791G>A	ENST00000295269.4	+	12	2498	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	681					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTCCTAGATGATGACAGCAG	0.443000													42	57					0	0	0.014410	0	0
F13A1	2162	broad.mit.edu	37	6	6248600	6248600	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:6248600A>G	ENST00000264870.3	-	6	1008	c.743T>C	c.(742-744)aTg>aCg	p.M248T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	248					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAGGTCCATTTGTGCTCT	0.438000													20	32					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179474673	179474673	+	Silent	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179474673A>G	ENST00000589042.1	-	272	51701	c.51477T>C	c.(51475-51477)ccT>ccC	p.P17159P	TTN_ENST00000359218.5_Silent_p.P8219P|TTN_ENST00000342992.6_Silent_p.P14591P|TTN_ENST00000342175.6_Silent_p.P8286P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P8094P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P15518P|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15518	Fibronectin type-III 24.						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)			CCTCCGCTGTAGGATTATGAA	0.403000													11	168					0	0	0.010729	0	0
C4orf40	401137	broad.mit.edu	37	4	71024155	71024155	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:71024155C>T	ENST00000344526.5	+	3	375	c.186C>T	c.(184-186)taC>taT	p.Y62Y	C4orf40_ENST00000502294.1_Silent_p.Y62Y|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	62						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						TCCCCAGTTACCCTGGGAATA	0.458000													76	91					0	0	0.014410	0	0
SLC13A4	26266	broad.mit.edu	37	7	135369006	135369006	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:135369006C>T	ENST00000354042.4	-	15	2298	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	537						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGCAGCGTTTCAGACTAGAAG	0.483000													33	37					0	0	0.019004	0	0
EPHA10	284656	broad.mit.edu	37	1	38227533	38227533	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:38227533C>T	ENST00000373048.4	-	3	393	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	EPHA10_ENST00000319637.6_Missense_Mutation_p.E132K|EPHA10_ENST00000427468.2_Missense_Mutation_p.E132K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	132						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			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)				GCCTCAGTTTCCAGGTAGTAG	0.657000													53	65					0	0	0.014410	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977491	92977491	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:92977491T>G	ENST00000268164.3	+	3	413	c.176T>G	c.(175-177)aTa>aGa	p.I59R	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.I38R	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	59					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAAGTTGTAATAAACGGCTCC	0.448000													6	119					0	0	0.003080	0	0
ROR2	4920	broad.mit.edu	37	9	94493274	94493274	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:94493274G>A	ENST00000375708.3	-	7	1299	c.1101C>T	c.(1099-1101)aaC>aaT	p.N367N	ROR2_ENST00000375715.1_Silent_p.N227N|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	367	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCCTCCGGGGTTCCGGCAGT	0.612000													18	27					0	0	0.007413	0	0
LRTM1	57408	broad.mit.edu	37	3	54959002	54959002	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:54959002T>C	ENST00000273286.5	-	2	410	c.248A>G	c.(247-249)aAc>aGc	p.N83S	LRTM1_ENST00000493075.1_Missense_Mutation_p.N7S|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	83						integral to membrane		p.N83S(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAGGGAATTGTTGGACAAGTT	0.453000													15	30					0	0	0.020292	0	0
KCNK1	3775	broad.mit.edu	37	1	233807194	233807194	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:233807194G>A	ENST00000366621.3	+	3	1097	c.929G>A	c.(928-930)gGc>gAc	p.G310D	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.G194D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	310						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CAGGCAGCTGGCATGAAAGAG	0.498000													28	33					0	0	0.007291	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427751	27427751	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:27427751G>A	ENST00000310574.3	-	8	1256	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SLC5A6_ENST00000408041.1_Silent_p.F261F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	261					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGACACCCCCGAAGGCCAAGG	0.582000													37	30					0	0	0.006999	0	0
EMR3	84658	broad.mit.edu	37	19	14779619	14779619	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:14779619G>A	ENST00000253673.5	-	2	171	c.71C>T	c.(70-72)aCc>aTc	p.T24I	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000595472.1_Missense_Mutation_p.T24I|EMR3_ENST00000443157.2_Missense_Mutation_p.T24I|EMR3_ENST00000344373.4_Missense_Mutation_p.T24I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	24	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTCACTTTTGGTTTTCTGAGT	0.512000													21	44					0	0	0.012319	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													7	55					0	0	0.001984	0	0
OR51L1	119682	broad.mit.edu	37	11	5021013	5021013	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:5021013G>A	ENST00000321543.1	+	1	801	c.801G>A	c.(799-801)ggG>ggA	p.G267G		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCGCTTTGGGAAGCATCTGT	0.463000													14	39					0	0	0.016723	0	0
LIPE	3991	broad.mit.edu	37	19	42930801	42930801	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:42930801C>T	ENST00000244289.4	-	1	777	c.501G>A	c.(499-501)agG>agA	p.R167R	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	167					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)				CAGATGGCTCCCTTTTGGCTC	0.572000													43	53					0	0	0.014410	0	0
CPPED1	55313	broad.mit.edu	37	16	12758963	12758963	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:12758963A>G	ENST00000381774.4	-	4	965	c.725T>C	c.(724-726)gTc>gCc	p.V242A	CPPED1_ENST00000433677.2_Missense_Mutation_p.V100A|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	242							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGAACACGACTTTGACACC	0.517000													7	22					0	0	0.006214	0	0
PI4KA	5297	broad.mit.edu	37	22	21174114	21174114	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:21174114C>G	ENST00000255882.6	-	6	690	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	PI4KA_ENST00000572273.1_Missense_Mutation_p.E144Q	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	144					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGGAGAGACTCTTCCATGTTG	0.468000													63	102					0	0	0.014410	0	0
ART4	420	broad.mit.edu	37	12	14994061	14994061	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:14994061G>A	ENST00000228936.4	-	2	552	c.171C>T	c.(169-171)ttC>ttT	p.F57F	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	57					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AACCTGGTGCGAAGTCGAAGT	0.373000													26	48					0	0	0.004656	0	0
ABCC1	4363	broad.mit.edu	37	16	16205272	16205272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr16:16205272G>A	ENST00000399408.2	+	23	3117	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	ABCC1_ENST00000399410.3_Missense_Mutation_p.G971E|ABCC1_ENST00000346370.5_Missense_Mutation_p.G915E|ABCC1_ENST00000349029.5_Missense_Mutation_p.G856E|ABCC1_ENST00000351154.5_Missense_Mutation_p.G912E|ABCC1_ENST00000345148.5_Missense_Mutation_p.G971E			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	971	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGCCATCGGACTCTTCATC	0.547000													82	109					0	0	0.014410	0	0
LRRC52	440699	broad.mit.edu	37	1	165513978	165513978	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:165513978A>C	ENST00000294818.1	+	1	735	c.445A>C	c.(445-447)Acc>Ccc	p.T149P	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	149						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTTTGCCAACACCACCTCTTT	0.522000													83	94					0	0	0.014410	0	0
KIF3C	3797	broad.mit.edu	37	2	26178485	26178485	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:26178485C>T	ENST00000264712.3	-	3	2274	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E	KIF3C_ENST00000405914.1_Silent_p.E565E	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	565					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATAGTCTCCTCGTCCCGGA	0.592000													7	87					0	0	0.003080	0	0
NOX4	50507	broad.mit.edu	37	11	89069079	89069079	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:89069079G>A	ENST00000535633.1	-	17	1788	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	NOX4_ENST00000528341.1_Missense_Mutation_p.S492L|NOX4_ENST00000525196.1_Missense_Mutation_p.S281L|NOX4_ENST00000263317.4_Missense_Mutation_p.S517L|NOX4_ENST00000531342.1_Missense_Mutation_p.S170L|NOX4_ENST00000527956.1_Missense_Mutation_p.S493L|NOX4_ENST00000375979.3_Missense_Mutation_p.S210L|NOX4_ENST00000424319.1_Missense_Mutation_p.S493L|NOX4_ENST00000534731.1_Missense_Mutation_p.S477L|NOX4_ENST00000532825.1_Missense_Mutation_p.S453L|NOX4_ENST00000343727.5_Missense_Mutation_p.S493L|NOX4_ENST00000413594.2_Missense_Mutation_p.S538L|NOX4_ENST00000542487.1_Missense_Mutation_p.S493L|NOX4_ENST00000527626.1_Missense_Mutation_p.S330L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	517	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)				AAACAGTCTTGAATTCAGTGC	0.323000													30	4					0	0	0.017118	0	0
DSC1	1823	broad.mit.edu	37	18	28714632	28714632	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr18:28714632C>T	ENST00000257197.3	-	12	2040	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.L593L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	593	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTACAGGTTTCAGAACAGCAA	0.378000													14	20					0	0	0.003163	0	0
SND1	27044	broad.mit.edu	37	7	127343259	127343259	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:127343259C>T	ENST00000354725.3	+	7	916	c.722C>T	c.(721-723)cCa>cTa	p.P241L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	241	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGTGAAACTCCAGAGCCTTTT	0.488000													36	55					0	0	0.017118	0	0
EIF3D	8664	broad.mit.edu	37	22	36922104	36922104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:36922104G>A	ENST00000216190.8	-	2	435	c.65C>T	c.(64-66)cCc>cTc	p.P22L	EIF3D_ENST00000541106.1_Missense_Mutation_p.P22L|EIF3D_ENST00000405442.1_Missense_Mutation_p.P22L	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	22						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAACTGCTCGGGAACCGCACA	0.512000													37	52					0	0	0.019004	0	0
NLRP11	204801	broad.mit.edu	37	19	56313004	56313004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:56313004G>A	ENST00000443188.1	-	7	2815	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	NLRP11_ENST00000360133.3_Missense_Mutation_p.S648F|NLRP11_ENST00000592953.1_Missense_Mutation_p.S603F|NLRP11_ENST00000589824.2_Missense_Mutation_p.S648F|NLRP11_ENST00000589093.1_Missense_Mutation_p.S702F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	702							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)		CATATTTAGGGAAATGGACGT	0.463000													44	69					0	0	0.010771	0	0
BMX	660	broad.mit.edu	37	X	15555257	15555257	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:15555257G>A	ENST00000357607.2	+	14	1411	c.1222_splice	c.e14-1	p.G408_splice	BMX_ENST00000342014.6_Splice_Site_p.G408_splice|BMX_ENST00000348343.6_Splice_Site_p.G408_splice			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	408					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCCTTGTTAGGAATCTGGGAA	0.483000													111	11					0	0	0.014410	0	0
EPHA4	2043	broad.mit.edu	37	2	222308250	222308250	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:222308250G>C	ENST00000281821.2	-	10	1892	c.1851C>G	c.(1849-1851)gaC>gaG	p.D617E	EPHA4_ENST00000392071.4_Missense_Mutation_p.D566E|EPHA4_ENST00000409854.1_Missense_Mutation_p.D617E|EPHA4_ENST00000409938.1_Missense_Mutation_p.D617E	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	617						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)		TGCAGGATGCGTCAATTTCTT	0.408000													19	35					0	0	0.010504	0	0
ACTN1	87	broad.mit.edu	37	14	69369277	69369277	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:69369277T>C	ENST00000193403.6	-	8	1062	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	ACTN1_ENST00000538545.2_Missense_Mutation_p.I227V|ACTN1_ENST00000376839.3_Missense_Mutation_p.I162V|ACTN1_ENST00000394419.4_Missense_Mutation_p.I227V|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000438964.2_Missense_Mutation_p.I227V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	227	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTTCCAACGATGTCTGTCAAG	0.547000													5	101					0	0	0.014758	0	0
PEAR1	375033	broad.mit.edu	37	1	156873748	156873748	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:156873748C>T	ENST00000338302.3	+	3	255	c.30C>T	c.(28-30)ctC>ctT	p.L10L	PEAR1_ENST00000292357.7_Silent_p.L10L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	10						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)					CCCTCCTTCTCCTGGCTGTGG	0.647000													55	78					0	0	0.014410	0	0
CTSV	1515	broad.mit.edu	37	9	99797857	99797857	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:99797857G>A	ENST00000259470.5	-	6	989	c.740C>T	c.(739-741)tCc>tTc	p.S247F	CTSV_ENST00000538255.1_Missense_Mutation_p.S247F	NM_001333.3	NP_001324.2			cathepsin V																		CATAGCAACGGAGATGGGCCC	0.473000													20	24					0	0	0.010504	0	0
RHOV	171177	broad.mit.edu	37	15	41165519	41165519	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:41165519C>T	ENST00000220507.4	-	3	597	c.448G>A	c.(448-450)Gat>Aat	p.D150N		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	150					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)		ACGTTGACATCGTCCCTCAGG	0.642000													60	47					0	0	0.014410	0	0
ECM2	1842	broad.mit.edu	37	9	95277159	95277159	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:95277159C>T	ENST00000344604.5	-	4	957	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E248K	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	270	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						tcctcctcctccCTTCCTTGG	0.602000													76	87					0	0	0.014410	0	0
SCAP	22937	broad.mit.edu	37	3	47462218	47462218	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:47462218G>A	ENST00000265565.5	-	12	1801	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.P208P|SCAP_ENST00000545718.1_Silent_p.P71P	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	463					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCTTGGCTGAGGGCAGGCAGG	0.647000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	45					0	0	0.021523	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895678	24895678	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr13:24895678C>T	ENST00000382071.2	+	4	859	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C1QTNF9_ENST00000332018.4_Silent_p.F258F|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	258	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TCACTGTTTTCTCCAGAAATG	0.448000													56	33					0	0	0.014410	0	0
FLNC	2318	broad.mit.edu	37	7	128490916	128490916	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:128490916G>A	ENST00000325888.8	+	33	5719	c.5458G>A	c.(5458-5460)Ggc>Agc	p.G1820S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1787S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1820					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						CAACAAGGACGGCACCATCAC	0.607000													44	61					0	0	0.013114	0	0
FANCB	2187	broad.mit.edu	37	X	14883218	14883218	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chrX:14883218C>A	ENST00000398334.1	-	3	682	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	FANCB_ENST00000324138.3_Missense_Mutation_p.G139C	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	139					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)					ATTAAAGGGCCATTAAGGACC	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	4					7.11191e-15	1.62297e-14	0.013726	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	171					0	0	0.001168	0	0
KMT2D	8085	broad.mit.edu	37	12	49435296	49435296	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:49435296T>C	ENST00000301067.7	-	31	6256	c.6257A>G	c.(6256-6258)aAg>aGg	p.K2086R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTTGGTCTGCTTGTTGATCTG	0.667000													29	82					0	0	0.009535	0	0
PHF2	5253	broad.mit.edu	37	9	96407930	96407930	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:96407930C>A	ENST00000359246.4	+	4	686	c.319C>A	c.(319-321)Cgt>Agt	p.R107S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	107					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CGTGGTGGCCCGTGTGCCAGG	0.652000													4	100					0.000602214	0.00133993	0.014758	1	0
FNDC5	252995	broad.mit.edu	37	1	33333430	33333430	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:33333430C>G	ENST00000373471.3	-	4	489	c.198G>C	c.(196-198)atG>atC	p.M66I		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	125	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCATCTCTTTCATGGTTACCT	0.562000													14	27					0	0	0.020292	0	0
NLRP7	199713	broad.mit.edu	37	19	55451265	55451265	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:55451265C>T	ENST00000588756.1	-	6	1408	c.922G>A	c.(922-924)Gac>Aac	p.D308N	NLRP7_ENST00000590030.1_Missense_Mutation_p.D308N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D336N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	308	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGGAGGTCCCTCAGTGCC	0.617000													29	22					0	0	0.006320	0	0
GBGT1	26301	broad.mit.edu	37	9	136029198	136029198	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:136029198G>A	ENST00000372043.3	-	7	1076	c.791C>T	c.(790-792)cCa>cTa	p.P264L	GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372040.3_Silent_p.A270A|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Silent_p.A253A	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CATATACCCTGGCCACCTGCC	0.597000													76	55					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23891495	23891495	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr14:23891495C>T	ENST00000355349.3	-	25	3301	c.3139G>A	c.(3139-3141)Gac>Aac	p.D1047N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1047					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)		CGCTCCAGGTCCATGCGCACC	0.577000													15	30					0	0	0.004007	0	0
LYN	4067	broad.mit.edu	37	8	56863053	56863053	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:56863053C>A	ENST00000520220.2	+	5	531	c.257C>A	c.(256-258)aCa>aAa	p.T86K	LYN_ENST00000519728.1_Missense_Mutation_p.T107K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	107	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCCCTTTTAACAAAAAAAGAA	0.378000													89	107					5.29478e-28	1.22718e-27	0.014410	1	0
ALPK2	115701	broad.mit.edu	37	18	56204943	56204943	+	Missense_Mutation	SNP	G	G	A	rs139158112	byFrequency	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr18:56204943G>A	ENST00000361673.3	-	5	2689	c.2476C>T	c.(2476-2478)Cca>Tca	p.P826S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	826							ATP binding|protein serine/threonine kinase activity	p.P192T(1)|p.P826T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTATCAACTGGTCTCCCAACA	0.418000													8	24					0	0	0.006122	0	0
C1orf173	127254	broad.mit.edu	37	1	75038347	75038347	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:75038347C>T	ENST00000326665.5	-	14	3265	c.3047G>A	c.(3046-3048)gGa>gAa	p.G1016E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1016	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCAAGGCTTCCTTCCTCAGG	0.507000													39	43					0	0	0.021022	0	0
PMP2	5375	broad.mit.edu	37	8	82356831	82356831	+	Missense_Mutation	SNP	G	G	A	rs149339630		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:82356831G>A	ENST00000519260.1	-	2	131	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000256103.2_Silent_p.I84I			P02689	MYP2_HUMAN	peripheral myelin protein 2	0						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GCAGGGTTACGATGCTCTGCA	0.403000													34	20					0	0	0.019004	0	0
TMEM108	66000	broad.mit.edu	37	3	133098779	133098779	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:133098779C>T	ENST00000515826.1	+	3	347	c.224C>T	c.(223-225)tCa>tTa	p.S75L	TMEM108_ENST00000321871.6_Missense_Mutation_p.S75L|TMEM108_ENST00000393130.3_Missense_Mutation_p.S75L|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	75	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGACCCCCCTCACAGGCTGCA	0.632000													46	44					0	0	0.014410	0	0
CLCN1	1180	broad.mit.edu	37	7	143028644	143028644	+	Splice_Site	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:143028644G>A	ENST00000343257.2	+	10	1152	c.1064_splice	c.e10-1	p.G355_splice		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	355					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACACCCTCAGGATTTGCTGTG	0.473000													30	35					0	0	0.008361	0	0
ROBO3	64221	broad.mit.edu	37	11	124745065	124745065	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:124745065C>T	ENST00000397801.1	+	14	2324	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	ROBO3_ENST00000538940.1_Missense_Mutation_p.P689L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	711	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTAGCAGGCCCTGAGGGAGGA	0.592000													18	3					0	0	0.006122	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344581	69344581	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:69344581C>T	ENST00000305363.4	+	9	1046	c.982C>T	c.(982-984)Cat>Tat	p.H328Y		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	328	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CAGTCAAAATCATCTTCGACA	0.343000													60	73					0	0	0.014410	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954319	35954319	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr5:35954319C>A	ENST00000274278.3	-	7	1914	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	519						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTCTTCACCTTCCTGGCCC	0.597000													16	3					5.01169e-05	0.000112071	0.004990	1	0
UBQLN1	29979	broad.mit.edu	37	9	86281333	86281333	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr9:86281333G>A	ENST00000376395.4	-	8	1787	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	UBQLN1_ENST00000257468.7_Intron	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	422					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCAAATAGGGGATTATTCAGC	0.388000													24	37					0	0	0.005443	0	0
ADCY10	55811	broad.mit.edu	37	1	167874300	167874300	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:167874300C>T	ENST00000367851.4	-	2	263	c.79G>A	c.(79-81)Gga>Aga	p.G27R	ADCY10_ENST00000476818.2_Missense_Mutation_p.G27R|ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	27					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGAAATGTCCATAGACAATG	0.413000													38	54					0	0	0.019004	0	0
DEPDC1	55635	broad.mit.edu	37	1	68943575	68943575	+	Silent	SNP	A	A	G			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:68943575A>G	ENST00000456315.2	-	11	2307	c.2193T>C	c.(2191-2193)gaT>gaC	p.D731D	DEPDC1_ENST00000370966.5_Silent_p.D447D	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	731					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTTTTTGCTCATCAAACTCCT	0.338000													5	208					0	0	0.001168	0	0
OR4A5	81318	broad.mit.edu	37	11	51411646	51411646	+	Silent	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:51411646G>A	ENST00000319760.6	-	1	802	c.750C>T	c.(748-750)ccC>ccT	p.P250P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P250Q(1)		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)				TGAAAATACAGGGTACAAAAA	0.393000													18	30					0	0	0.006122	0	0
SCN5A	6331	broad.mit.edu	37	3	38592632	38592632	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr3:38592632C>T	ENST00000413689.1	-	28	5424	c.5231G>A	c.(5230-5232)aGc>aAc	p.S1744N	SCN5A_ENST00000443581.1_Missense_Mutation_p.S1743N|SCN5A_ENST00000425664.1_Missense_Mutation_p.S1726N|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1743N|SCN5A_ENST00000414099.2_Missense_Mutation_p.S1726N|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1711N|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1690N|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1744N|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1690N|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1690N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1744					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)	CACGGCTGGGCTCCCGCAGTC	0.607000													38	32					0	0	0.021022	0	0
GBF1	8729	broad.mit.edu	37	10	104120095	104120095	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr10:104120095C>T	ENST00000369983.3	+	12	1592	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	444					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCCCTGTAGCCCAGTGCCAGA	0.527000													70	13					0	0	0.014410	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253266	24253266	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:24253266G>A	ENST00000538205.1	+	6	707	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E133K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E54K	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	133					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E133K(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)		CATCCTAAATGAAAAGAATTC	0.363000													16	8					0	0	0.008871	0	0
TFPI2	7980	broad.mit.edu	37	7	93516204	93516204	+	Silent	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:93516204C>T	ENST00000222543.5	-	5	948	c.636G>A	c.(634-636)ttG>ttA	p.L212L	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.L101L	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	212					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTTTCTTTTTCAAAGCTAAAA	0.333000													61	78					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113516040	113516040	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr8:113516040C>T	ENST00000297405.5	-	30	5306	c.5062G>A	c.(5062-5064)Gga>Aga	p.G1688R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1688R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1584R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1648R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1688	CUB 9.					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						AGATGAAATCCAGTGTAACTA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	31					0	0	0.008871	0	0
COL11A2	1302	broad.mit.edu	37	6	33141174	33141174	+	Missense_Mutation	SNP	G	G	A	rs150065075		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr6:33141174G>A	ENST00000341947.2	-	37	2914	c.2687C>T	c.(2686-2688)cCc>cTc	p.P896L	COL11A2_ENST00000374708.4_Missense_Mutation_p.P810L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.P836L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P875L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P815L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P789L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P870L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P849L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	896	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTTCCCAGGGGGGCCCTGGAA	0.597000													33	46					0	0	0.017118	0	0
TTN	7273	broad.mit.edu	37	2	179611213	179611213	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr2:179611213G>A	ENST00000360870.5	-	46	16136	c.15914C>T	c.(15913-15915)cCt>cTt	p.P5305L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8823	Ig-like 33.						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)			TTGAGGAGAAGGTGTTCTTGA	0.413000													24	30					0	0	0.018920	0	0
GBP2	2634	broad.mit.edu	37	1	89586829	89586829	+	Silent	SNP	C	C	T	rs147250118	byFrequency	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr1:89586829C>T	ENST00000370466.3	-	3	583	c.315G>A	c.(313-315)gaG>gaA	p.E105E		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	105					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TTTTTACCTTCTCTATATCTC	0.413000													24	34					0	0	0.014323	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379058	25379058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr4:25379058delT	ENST00000315368.3	+	2	151	c.9delT	c.(7-9)cgfs	p.R3fs	ANAPC4_ENST00000510092.1_Frame_Shift_Del_p.R3fs	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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 K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CCATGTTGCGTTTTCCGACCT	0.632													16	36	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													6	4	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64533440	64533448	+	In_Frame_Del	DEL	AGGCGGTGG	AGGCGGTGG	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:64533440_64533448delAGGCGGTGG	ENST00000377390.3	-	13	2099_2107	c.1762_1770delCCACCGCCT	c.(1762-1770)del	p.PPP588del	SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_In_Frame_Del_p.PPP588del|SF1_ENST00000377394.3_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_In_Frame_Del_p.PPP562del	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	588	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CGGCGGAACCAGGCGGTGGAGGCGGCGGA	0.703													7	0	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268180	65268180	+	RNA	DEL	A	A	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr11:65268180delA	ENST00000534336.1	+	0	2948					NR_002819.2																						TTGTGCGTAGAGGATCCTAGA	0.532													44	16	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)agfs	p.K1033fs	MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557													8	360	---	---	---	---					
GABRB3	2562	broad.mit.edu	37	15	26866484	26866485	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:26866484_26866485insTC	ENST00000541819.2	-	5	707_708	c.605_606insGA	c.(604-606)gggfs	p.G202fs	GABRB3_ENST00000311550.5_Frame_Shift_Ins_p.G146fs|GABRB3_ENST00000299267.4_Frame_Shift_Ins_p.G146fs|GABRB3_ENST00000545868.1_Frame_Shift_Ins_p.G61fs|GABRB3_ENST00000400188.3_Frame_Shift_Ins_p.G75fs			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	146					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCACTGTCCCATCAGGGTGAAG	0.460													46	89	---	---	---	---					
DIS3L	115752	broad.mit.edu	37	15	66610870	66610870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr15:66610870delA	ENST00000319194.5	+	8	1090	c.829delA	c.(829-831)aafs	p.K277fs	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319212.4_Frame_Shift_Del_p.K360fs	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	360					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCTCAGGGCAAAAATGCTCA	0.453													60	72	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50099739	50099739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr19:50099739delC	ENST00000418929.2	+	4	2159	c.2147delC	c.(2146-2148)ggfs	p.A717fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	440	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGTGCCACTGCGGCACTGGAG	0.652													11	8	---	---	---	---					
EP300-AS1	101927279	broad.mit.edu	37	22	41586193	41586193	+	RNA	DEL	A	A	-	rs150908685		TCGA-ER-A2NE-06A-21D-A196-08	TCGA-ER-A2NE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd02c28-32da-429b-8f82-8c5f210f94fe	a44453e0-abf7-4d0a-a87c-08baba5ac015	g.chr22:41586193delA	ENST00000420537.1	-	0	223																											CTTCAAAGGCaaaaaaaaaaa	0.408													4	7	---	---	---	---					
