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
KRT72	140807	broad.mit.edu	37	12	52992816	52992816	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:52992816C>T	ENST00000293745.2	-	2	592	c.507G>A	c.(505-507)agG>agA	p.R169R	KRT72_ENST00000354310.4_Silent_p.R169R|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Silent_p.R169R	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	169	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCAGGTTCTTCCTGCAGTTGT	0.562000													41	63					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732556	92732556	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:92732556C>G	ENST00000379958.2	-	3	3124	c.2855G>C	c.(2854-2856)gGg>gCg	p.G952A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	952						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTCTGTCCCCCAGAAAGC	0.398000													28	46					0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552340	152552340	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:152552340T>G	ENST00000368787.3	-	2	129	c.73A>C	c.(73-75)Agc>Cgc	p.S25R		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	25					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGTACTGGGCTCTTTGGGGGA	0.622000													64	103					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	152873538	152873538	+	Missense_Mutation	SNP	G	G	C	rs147434856		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:152873538G>C	ENST00000285900.5	+	2	476	c.133G>C	c.(133-135)Gct>Cct	p.A45P	GRIA1_ENST00000448073.4_Missense_Mutation_p.A55P|GRIA1_ENST00000340592.5_Missense_Mutation_p.A45P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.A55P|GRIA1_ENST00000518142.1_Missense_Mutation_p.A45P|GRIA1_ENST00000521843.2_5'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	45					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTTAGATTTGCTTTGTCGCA	0.433000													44	50					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891708	132891708	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:132891708T>G	ENST00000275198.1	+	1	248	c.248T>G	c.(247-249)gTg>gGg	p.V83G		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	83						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTGGTGGGTGTGACTGTGATG	0.502000													31	67					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78201660	78201660	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:78201660C>G	ENST00000361193.3	+	7	917	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.L213V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.L213V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L213V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	213						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCTGCTGCTGGTGCTGAA	0.682000													4	173					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167249033	167249033	+	Silent	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:167249033T>C	ENST00000308378.3	-	9	1337	c.1032A>G	c.(1030-1032)agA>agG	p.R344R	WDR49_ENST00000476376.1_Silent_p.R169R|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.R408R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	344										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGGTTGGCTTCTCCCAGCAC	0.433000													28	35					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10267247	10267247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:10267247G>A	ENST00000360566.2	+	7	1169	c.878G>A	c.(877-879)gGc>gAc	p.G293D	RRM2_ENST00000304567.5_Missense_Mutation_p.G233D	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	233					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCAGTGGAAGGCATTTTCTTT	0.423000													67	101					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513234	4513234	+	Silent	SNP	C	C	T	rs145635295	by1000genomes	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:4513234C>T	ENST00000301286.3	-	3	695	c.696G>A	c.(694-696)gtG>gtA	p.V232V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	232	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCACTGCCCCTG	0.567000													127	151					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791228	237791228	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:237791228G>A	ENST00000366574.2	+	41	6605	c.6288G>A	c.(6286-6288)ggG>ggA	p.G2096G	RYR2_ENST00000360064.6_Silent_p.G2094G|RYR2_ENST00000542537.1_Silent_p.G2080G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2096	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGCATTGGGGGTCTTGTTC	0.572000													15	22					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900416	13900416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:13900416C>T	ENST00000265104.4	-	15	2262	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	720	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTCTGTTTCTCTAAATAAG	0.423000									Kartagener syndrome				35	62					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532674	84532674	+	RNA	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:84532674T>G	ENST00000527857.1	+	0	2696					NR_026851.1																						TGAGGACCACTGCGTTGATAC	0.433000													3	40					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338800	13338800	+	RNA	SNP	G	G	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:13338800G>C	ENST00000602906.1	+	0	588																				kidney(3)|lung(1)	4						Cagaggaagagaaaggtgaga	0.433000													5	2					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76557814	76557814	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:76557814C>T	ENST00000389840.5	-	12	1942	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	DNAH17_ENST00000585328.1_Silent_p.L606L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGACGTGCTTCAGGTGTTTCA	0.642000													6	17					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57486350	57486350	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:57486350C>T	ENST00000300131.3	+	3	1455	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Silent_p.S359S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	359	Necessary for nuclear localization (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTTGTCCTCCTTGAAGGGCT	0.547000													20	27					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727835	36727835	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:36727835T>C	ENST00000456324.1	+	3	1942	c.493T>C	c.(493-495)Ttt>Ctt	p.F165L	ZNF146_ENST00000443387.2_Missense_Mutation_p.F165L|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	165					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGGAACAGCCTTTGGCCAGAA	0.418000													30	56					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42092220	42092220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42092220C>T	ENST00000407170.2	+	7	1307	c.494C>T	c.(493-495)tCc>tTc	p.S165F	CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S292F|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S293F			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	293	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AGCTCCATCTCCTAGGTAAGA	0.592000													24	2					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358232	57358232	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:57358232G>T	ENST00000374900.4	+	4	734	c.614G>T	c.(613-615)gGa>gTa	p.G205V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	205						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATTGTAGGTGGAAGTTCTGGT	0.343000										HNSCC(52;0.14)			65	18					1.25089e-41	1.30115e-41	1	1	0
RYR2	6262	broad.mit.edu	37	1	237794808	237794808	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:237794808C>T	ENST00000366574.2	+	42	6839	c.6522C>T	c.(6520-6522)gtC>gtT	p.V2174V	RYR2_ENST00000360064.6_Silent_p.V2172V|RYR2_ENST00000542537.1_Silent_p.V2158V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2174	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATGGAGGTCATGGTGAACG	0.433000													18	30					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75							ATP binding										CTGCAGGGGGAGTGGCAAGAG	0.587000													4	199					0	0	1	0	0
AP1S1	1174	broad.mit.edu	37	7	100799942	100799942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100799942C>T	ENST00000337619.5	+	2	189	c.71C>T	c.(70-72)tCg>tTg	p.S24L		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	24					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGCCACTTCGGACAAGGAA	0.557000													22	27					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072305	63072305	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:63072305C>T	ENST00000332793.6	+	9	1544	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	514						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGTCTTCCTCCTACCAGAAA	0.448000													38	71					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307593	46307593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:46307593G>A	ENST00000510861.1	-	7	868	c.695C>T	c.(694-696)tCc>tTc	p.S232F	GABRA2_ENST00000356504.1_Missense_Mutation_p.S232F|GABRA2_ENST00000381620.4_Missense_Mutation_p.S232F|GABRA2_ENST00000507069.1_Missense_Mutation_p.S232F|GABRA2_ENST00000514090.1_Missense_Mutation_p.S232F|GABRA2_ENST00000515082.1_Missense_Mutation_p.S232F|GABRA2_ENST00000540012.1_Missense_Mutation_p.S177F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	232					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACCTGTACTGGATTTAATTGT	0.368000													33	48					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917663	38917663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:38917663C>T	ENST00000274276.3	+	10	1703	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	434	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCAGAGGCCCCTGATGTCTGG	0.413000													45	38					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602625	5602625	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5602625C>T	ENST00000345043.2	+	1	519	c.519C>T	c.(517-519)atC>atT	p.I173I	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCTTCATCATTATGTTTC	0.498000													117	154					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434034	69434034	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:69434034G>A	ENST00000337103.4	+	5	2025	c.432_splice	c.e5-1	p.E145_splice	C8orf34_ENST00000539993.1_Splice_Site_p.E170_splice|C8orf34_ENST00000518698.1_Splice_Site_p.E256_splice|C8orf34_ENST00000348340.2_Splice_Site_p.E170_splice|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	170					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCTTCAGGAAACAGTGAC	0.388000													22	74					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462153	5462153	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:5462153G>A	ENST00000345221.3	-	4	2417	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	NLRP1_ENST00000572272.1_Silent_p.F621F|NLRP1_ENST00000577119.1_Silent_p.F621F|NLRP1_ENST00000262467.5_Silent_p.F621F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.F621F|NLRP1_ENST00000354411.3_Silent_p.F621F	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	621	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGAGGTGAATGAAGCTGTAGC	0.458000													22	25					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44836900	44836900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:44836900G>A	ENST00000270162.6	-	14	2206	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	692					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCAGCCCCAGGGCCATCACAG	0.761000													3	0					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615668	140615668	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140615668C>T	ENST00000526308.1	+	0	1731					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCACCTATTCGCCCTCAGGT	0.687000													90	132					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479890	6479890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:6479890G>A	ENST00000381480.2	-	3	218	c.106C>T	c.(106-108)Cct>Tct	p.P36S	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Intron	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	36	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAGTCTGGAGGGAACTGCCGC	0.647000													7	10					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842764	123842764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:123842764C>T	ENST00000369005.1	+	4	1089	c.749C>T	c.(748-750)cCt>cTt	p.P250L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P250L|TACC2_ENST00000515603.1_Missense_Mutation_p.P250L|TACC2_ENST00000515273.1_Missense_Mutation_p.P250L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P250L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	250						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAAGTGACCCCTGAGGCCCCT	0.627000													26	2					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78820345	78820345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:78820345C>T	ENST00000306801.3	+	11	1647	c.1285C>T	c.(1285-1287)Cca>Tca	p.P429S	RPTOR_ENST00000544334.2_Missense_Mutation_p.P429S|RPTOR_ENST00000537330.1_Missense_Mutation_p.P244S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	429					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GAACCGAAACCCACCCGAACA	0.622000													61	72					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52951929	52951929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:52951929G>A	ENST00000349258.4	-	4	2561	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	THSD1_ENST00000258613.4_Missense_Mutation_p.P726S|THSD1_ENST00000544466.1_Missense_Mutation_p.P347S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	726						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TAGGATTTAGGGAGAGGGTTT	0.537000													57	71					0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20931527	20931527	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:20931527C>T	ENST00000375071.3	+	2	443	c.261C>T	c.(259-261)atC>atT	p.I87I	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	87					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CAATTGCTATCGCCAGGTGAG	0.453000													8	22					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22089526	22089526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:22089526G>A	ENST00000261200.4	-	1	82	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ABCC9_ENST00000326684.4_Missense_Mutation_p.A28V|ABCC9_ENST00000538350.1_Missense_Mutation_p.A28V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A28V|ABCC9_ENST00000261201.4_Missense_Mutation_p.A28V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	28					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTTGAGGGCATCCACAAA	0.323000													25	27					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169823502	169823502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:169823502G>A	ENST00000367772.4	-	13	2275	c.2078C>T	c.(2077-2079)cCt>cTt	p.P693L	SCYL3_ENST00000367770.1_Missense_Mutation_p.P693L|SCYL3_ENST00000367771.5_Missense_Mutation_p.P639L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	693	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCAGTTCAGGTAATATAAG	0.398000													35	53					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1526974	1526974	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:1526974G>A	ENST00000389470.4	-	21	3056	c.3057C>T	c.(3055-3057)ctC>ctT	p.L1019L	INTS1_ENST00000404767.3_Silent_p.L876L			Q8N201	INT1_HUMAN	integrator complex subunit 1	876					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGATGATGTGGAGGAGAAAGT	0.627000													9	12					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102363938	102363938	+	Silent	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:102363938T>C	ENST00000438793.3	+	24	3209	c.2739T>C	c.(2737-2739)ttT>ttC	p.F913F	PAM_ENST00000348126.2_Silent_p.F806F|PAM_ENST00000274392.9_Silent_p.F815F|PAM_ENST00000346918.2_Intron|PAM_ENST00000304400.7_Silent_p.F914F|PAM_ENST00000379787.4_Intron|PAM_ENST00000455264.2_Silent_p.F845F	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	913					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGGGAAGATTTAGAGGTATGC	0.373000													45	57					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117838788	117838788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:117838788C>T	ENST00000350763.4	-	8	3152	c.2741G>A	c.(2740-2742)aGg>aAg	p.R914K	TNC_ENST00000346706.3_Missense_Mutation_p.R914K|TNC_ENST00000345230.3_Missense_Mutation_p.R914K|TNC_ENST00000537320.1_Missense_Mutation_p.R914K|TNC_ENST00000341037.4_Missense_Mutation_p.R914K|TNC_ENST00000423613.2_Missense_Mutation_p.R914K|TNC_ENST00000340094.3_Missense_Mutation_p.R914K|TNC_ENST00000542877.1_Missense_Mutation_p.R914K|TNC_ENST00000535648.1_Missense_Mutation_p.R914K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	914	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTTGCCATTCCTCCATTCCAG	0.483000													213	325					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250668	37250668	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:37250668G>A	ENST00000373491.3	+	5	758	c.612G>A	c.(610-612)agG>agA	p.R204R		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	204						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			ATGAACTGAGGAAGTGTAGCT	0.493000													25	6					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067660	190067660	+	Missense_Mutation	SNP	C	C	T	rs139472620		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:190067660C>T	ENST00000367462.3	-	8	2020	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	FAM5C_ENST00000534846.1_Missense_Mutation_p.E495K|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		597						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTAGTCCGCTCCCAGTCTGGA	0.478000													128	182					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605141	177605141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:177605141G>A	ENST00000280193.2	-	7	1614	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	400					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCACTATATGAAAATCCTGG	0.408000													38	47					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156704242	156704242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:156704242G>A	ENST00000368216.4	+	6	1708	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	360						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCGTCGGCCAGGCGTGCAGGG	0.602000													4	7					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588891	61588891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:61588891C>T	ENST00000370349.3	+	4	542	c.338C>T	c.(337-339)gCc>gTc	p.A113V	SLC17A9_ENST00000370351.4_Missense_Mutation_p.A119V|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	119					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCCCACCTGGCCTTCATGACC	0.642000													21	24					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731354	23731354	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:23731354G>A	ENST00000304749.2	-	1	220	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CST1_ENST00000398402.1_Silent_p.F50F	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	50						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGCTGATGGCGAAGTGAAGGG	0.572000													40	55					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523344	9523344	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:9523344G>A	ENST00000378429.3	-	10	2439	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	PAK7_ENST00000353224.5_Silent_p.I631I|PAK7_ENST00000378423.1_Silent_p.I631I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTATCACCATGATCCCGAGGG	0.522000													36	64					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39794935	39794935	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:39794935A>G	ENST00000373272.2	+	17	2306	c.1901A>G	c.(1900-1902)gAc>gGc	p.D634G	PLCG1_ENST00000244007.3_Missense_Mutation_p.D634G|PLCG1_ENST00000373271.1_Missense_Mutation_p.D634G	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	634	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCCCTCTATGACCTCATCACG	0.562000													39	51					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033543	40033543	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:40033543A>C	ENST00000373233.3	-	37	8015	c.7838T>G	c.(7837-7839)cTc>cGc	p.L2613R	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2613					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCTGGGATGAGAAATGGGTT	0.507000													46	40					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11790251	11790251	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:11790251A>C	ENST00000262442.3	+	57	11149	c.11081A>C	c.(11080-11082)aAg>aCg	p.K3694T	DNAH9_ENST00000396001.2_Missense_Mutation_p.K6T|DNAH9_ENST00000454412.2_Missense_Mutation_p.K3694T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3694					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACCTCAGCAAGATCCATCCA	0.488000													43	54					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072000	73072000	+	RNA	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:73072000A>C	ENST00000429829.1	-	0	588					NR_001564.2																						AATTTTTAAAAAGCAGATATC	0.458000													5	0					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166974589	166974589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:166974589G>A	ENST00000367872.4	+	8	1044	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MAEL_ENST00000367870.2_Missense_Mutation_p.R236Q|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	267					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTTGGATTCGAAGCCTCCTA	0.403000													24	31					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15260488	15260488	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:15260488C>T	ENST00000379554.3	+	11	1448	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Silent_p.L379L|INSC_ENST00000528567.1_Silent_p.L421L|INSC_ENST00000379556.3_Silent_p.L421L|INSC_ENST00000530161.1_Silent_p.L421L|INSC_ENST00000525218.1_Silent_p.L379L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	468					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CATGGGCATGCTGTCTGAAAA	0.592000													24	33					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653276	1653276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:1653276G>A	ENST00000252804.4	-	17	2326	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	759					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCGGTCAGCGAGGCGCCCCA	0.627000													53	106					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964314	6964314	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:6964314G>A	ENST00000278319.5	+	5	1072	c.483_splice	c.e5-1	p.E162_splice	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000529903.1_Splice_Site_p.E162_splice|ZNF215_ENST00000414517.2_Splice_Site_p.E162_splice	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATGTTTTAGGAACCAGTGAC	0.438000													49	73					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37224149	37224149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:37224149C>T	ENST00000315392.4	-	14	1658	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	PLXDC1_ENST00000444911.2_Missense_Mutation_p.E443K|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	483					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTCCACCTCCGCATAGGTG	0.577000													36	60					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114340551	114340551	+	Missense_Mutation	SNP	G	G	A	rs140048385		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:114340551G>A	ENST00000261441.5	-	2	874	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	271						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACATTTTAAGGCGTCTTCCT	0.398000													59	89					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967982	49967982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:49967982C>T	ENST00000293350.4	+	12	1694	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.P460S|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.P346S|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.P348S|CTD-3148I10.9_ENST00000599536.1_3'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	511							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTCGCTGTTCCCTCAACCCT	0.612000													215	35					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374607	39374607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:39374607C>T	ENST00000326306.4	+	2	923	c.785C>T	c.(784-786)tCc>tTc	p.S262F	CCR8_ENST00000545843.1_Missense_Mutation_p.S179F|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	262					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.S262F(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTCCTCACTTCCTTGCACAGT	0.453000													25	27					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57486351	57486351	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:57486351T>A	ENST00000300131.3	+	3	1456	c.1078T>A	c.(1078-1080)Ttg>Atg	p.L360M	NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.L360M	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	360	Necessary for nuclear localization (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTGTCCTCCTTGAAGGGCTC	0.547000													21	27					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038844	75038844	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:75038844C>T	ENST00000326665.5	-	14	2768	c.2550G>A	c.(2548-2550)agG>agA	p.R850R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	850	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						CTTCACCCAGCCTTCTGACCC	0.532000													40	81					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908172	103908172	+	Missense_Mutation	SNP	C	C	T	rs114077203	byFrequency	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:103908172C>T	ENST00000302259.3	+	1	865	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	208					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCACTGGATCGGGAAGCTCA	0.493000													47	47					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158630674	158630674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:158630674G>A	ENST00000263640.3	-	6	998	c.569C>T	c.(568-570)tCa>tTa	p.S190L	ACVR1_ENST00000409283.2_Missense_Mutation_p.S190L|ACVR1_ENST00000410057.2_Missense_Mutation_p.S190L|ACVR1_ENST00000434821.1_Missense_Mutation_p.S190L	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	190	GS.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCCACTTCCTGATGTACACGA	0.418000													46	56					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927948	6927948	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:6927948G>A	ENST00000293805.5	+	4	722	c.630G>A	c.(628-630)ggG>ggA	p.G210G	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	210						nucleus	zinc ion binding			skin(1)	1						CCCAAGCAGGGAGCCTGGTCG	0.622000													51	68					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283073	63283073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:63283073C>T	ENST00000415491.2	+	7	1183	c.569C>T	c.(568-570)cCt>cTt	p.P190L	LGALS12_ENST00000340246.5_Missense_Mutation_p.P252L|LGALS12_ENST00000394618.3_Missense_Mutation_p.P251L|LGALS12_ENST00000425950.2_Missense_Mutation_p.P181L|LGALS12_ENST00000255684.5_Missense_Mutation_p.P242L	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	251					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCCCATGCTCCTGTGACACTC	0.597000													49	56					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876855	13876855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:13876855C>T	ENST00000265104.4	-	22	3438	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1112	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTGTTTTCAGAAACATTC	0.353000									Kartagener syndrome				20	28					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142504958	142504958	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:142504958C>T	ENST00000430863.1	-	0	568					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		AGTTTTCTCCCAGGTCTCCTC	0.612000													3	22					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31856331	31856331	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:31856331A>C	ENST00000543095.2	-	8	1368	c.1184T>G	c.(1183-1185)gTt>gGt	p.V395G	HEATR5A_ENST00000404677.3_Missense_Mutation_p.V395G|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V102G|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V389G|HEATR5A_ENST00000389961.3_Missense_Mutation_p.V389G	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	389							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CATACCCATAACTTTCTTTAG	0.373000													65	56					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	C	T	rs150230498		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:12907847C>T	ENST00000317869.6	-	2	521	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CGCTGCTGATCGTTTCACACC	0.488000													15	119					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14755005	14755005	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:14755005A>T	ENST00000253673.5	-	9	1065	c.965T>A	c.(964-966)tTc>tAc	p.F322Y	EMR3_ENST00000599900.1_Missense_Mutation_p.F107Y|EMR3_ENST00000344373.4_Missense_Mutation_p.F270Y|EMR3_ENST00000443157.2_Missense_Mutation_p.F196Y	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	322	GPS.				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						GTGTATCAGGAAGCAGCCATC	0.502000													46	51					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:49397710C>T	ENST00000418115.1	-	5	898	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	172					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTAGCCATTTCAAAAACCTCT	0.483000													67	69					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481150	140481150	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140481150A>C	ENST00000231130.2	+	1	917	c.917A>C	c.(916-918)tAt>tCt	p.Y306S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		306	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTCAAATATTTGAATTTT	0.388000													24	30					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66458601	66458601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:66458601C>T	ENST00000404260.3	+	28	4269	c.3961C>T	c.(3961-3963)Cct>Tct	p.P1321S	MAST4_ENST00000405643.1_Missense_Mutation_p.P1139S|MAST4_ENST00000403625.2_Missense_Mutation_p.P1318S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1129S|MAST4_ENST00000261569.7_Missense_Mutation_p.P1124S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1321	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P1321S(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGCTCCACCCCTGACTTCCC	0.557000													19	15					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179258	105179258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:105179258C>T	ENST00000428173.2	+	21	3902	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	NRK_ENST00000243300.9_Missense_Mutation_p.P1199L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1199							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGTAAAAAACCACTAATCCAC	0.388000										HNSCC(51;0.14)			35	9					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191587	149191587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:149191587G>A	ENST00000461958.2	-	2	228	c.32C>T	c.(31-33)cCg>cTg	p.P11L	ZNF746_ENST00000458143.2_Missense_Mutation_p.P11L|ZNF746_ENST00000340622.3_Missense_Mutation_p.P11L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	11					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CATCGTCCACGGAGAAATCTT	0.552000													51	76					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722409	129722409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:129722409G>A	ENST00000281441.3	+	2	120	c.32G>A	c.(31-33)gGg>gAg	p.G11E	TMEM45B_ENST00000524567.1_Missense_Mutation_p.G11E	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	11						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCGCTTCCAGGGAGTTTCTTC	0.463000													30	41					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064411	9064411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:9064411G>A	ENST00000397910.4	-	3	23238	c.23035C>T	c.(23035-23037)Ccc>Tcc	p.P7679S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7681	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCACAAAGGGAGGGCTAGGC	0.542000													21	39					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275743	130275743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:130275743G>A	ENST00000257359.6	-	9	3086	c.2380C>T	c.(2380-2382)Cct>Tct	p.P794S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	794	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCTCGCCAGGGACTGTCAGG	0.567000													104	140					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532685	84532685	+	RNA	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:84532685T>C	ENST00000527857.1	+	0	2707					NR_026851.1																						GCGTTGATACTTCCCAGGAGA	0.443000													4	38					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666540	160666540	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:160666540T>C	ENST00000366952.1	-	8	2413	c.932A>G	c.(931-933)aAc>aGc	p.N311S	SLC22A2_ENST00000366953.3_Missense_Mutation_p.N332S|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	332					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AAATGAAGGGTTCAATTTCTT	0.388000													18	17					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716997	13716997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:13716997C>T	ENST00000279593.3	-	13	3384	c.3175G>A	c.(3175-3177)Gat>Aat	p.D1059N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1059					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAGAGACATCGGAGCGGATC	0.572000													19	30					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302201	114302201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:114302201G>A	ENST00000408937.3	+	15	2178	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	FOXP2_ENST00000393491.3_Missense_Mutation_p.E392K|FOXP2_ENST00000393494.2_Missense_Mutation_p.E577K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E485K|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.E577K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E556K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E594K	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	577					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACTGTGGATGAAGTAGAATA	0.388000													25	70					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792327	143792327	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:143792327A>T	ENST00000408949.2	+	1	187	c.127A>T	c.(127-129)Att>Ttt	p.I43F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGGAAATGGGATTATCCTGGG	0.493000													101	146					0	0	1	0	0
LY86-AS1	285780	broad.mit.edu	37	6	6347466	6347466	+	RNA	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:6347466G>A	ENST00000429345.1	-	0	1172					NR_026970.1																						AGTTGGAGAAGACAGCACCTC	0.488000													8	38					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687522	5687522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:5687522C>T	ENST00000581521.1	+	9	986	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	HSD11B1L_ENST00000423665.2_Missense_Mutation_p.P171S|HSD11B1L_ENST00000339423.2_Missense_Mutation_p.P171S|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.P37S|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.P171S|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.P37S|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.P90S|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.P90S|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.P84S|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.P37S|RPL36_ENST00000579649.1_Intron			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	171						extracellular region	binding|oxidoreductase activity										AGGCCGCGTGCCCACGTCGTT	0.711000													4	10					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42777380	42777380	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:42777380A>C	ENST00000310232.6	-	10	1273	c.1190T>G	c.(1189-1191)aTc>aGc	p.I397S	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	397										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTGCCTAGGATCTCCTGTAG	0.622000													10	16					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225685482	225685482	+	Missense_Mutation	SNP	C	C	A	rs114476062	byFrequency	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:225685482C>A	ENST00000366844.2	-	15	2222	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	ENAH_ENST00000284563.6_Missense_Mutation_p.A817S|ENAH_ENST00000366843.2_Missense_Mutation_p.A570S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	591					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTCCTCTATGCAGTATTTGAC	0.353000													10	66					7.93312e-07	8.12491e-07	1	1	0
ZNF282	8427	broad.mit.edu	37	7	148907714	148907714	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:148907714C>T	ENST00000262085.3	+	5	975	c.870C>T	c.(868-870)tcC>tcT	p.S290S	ZNF282_ENST00000479907.1_Silent_p.S290S	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	290					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ATGCGTCCTCCCAGGTGAAGC	0.602000													10	28					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:55715321G>A	ENST00000379668.2	+	1	976	c.938G>A	c.(937-939)tGa>tAa	p.*313*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000													51	58					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41018831	41018831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:41018831C>T	ENST00000399564.4	-	26	3085	c.2635G>A	c.(2635-2637)Gat>Aat	p.D879N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D434N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCACATTATCCCACATCATG	0.428000													18	35					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648273	38648273	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:38648273T>C	ENST00000413689.1	-	9	1220	c.1027A>G	c.(1027-1029)Aag>Gag	p.K343E	SCN5A_ENST00000414099.2_Missense_Mutation_p.K343E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K343E|SCN5A_ENST00000333535.4_Missense_Mutation_p.K343E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K343E|SCN5A_ENST00000423572.2_Missense_Mutation_p.K343E|SCN5A_ENST00000450102.2_Missense_Mutation_p.K343E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K343E|SCN5A_ENST00000451551.2_Missense_Mutation_p.K343E|SCN5A_ENST00000449557.2_Missense_Mutation_p.K343E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	343					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)	TCGCCTGCCTTTAGGCACCGG	0.617000													43	55					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35748557	35748557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:35748557G>A	ENST00000187397.4	+	10	1234	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ARPP21_ENST00000337271.5_Missense_Mutation_p.D260N|ARPP21_ENST00000444190.1_Missense_Mutation_p.D260N|ARPP21_ENST00000417925.1_Missense_Mutation_p.D260N|ARPP21_ENST00000458225.1_Missense_Mutation_p.D260N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	260						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTCTAGTATTGATAAAGAAGA	0.418000													33	43					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119469190	119469190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:119469190G>A	ENST00000369429.3	-	3	473	c.464C>T	c.(463-465)cCa>cTa	p.P155L	TBX15_ENST00000207157.3_Missense_Mutation_p.P49L			Q96SF7	TBX15_HUMAN	T-box 15	155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTGATGTGGATCTAGGCC	0.438000													30	34					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216253025	216253025	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:216253025C>T	ENST00000354785.4	-	27	4622		c.e27-1		FN1_ENST00000446046.1_Splice_Site|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000432072.2_Splice_Site|FN1_ENST00000359671.1_Splice_Site|FN1_ENST00000421182.1_Splice_Site|FN1_ENST00000357867.4_Splice_Site|FN1_ENST00000357009.2_Splice_Site|FN1_ENST00000356005.4_Splice_Site|FN1_ENST00000346544.3_Splice_Site|FN1_ENST00000345488.5_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000323926.6_Splice_Site			P02751	FINC_HUMAN	fibronectin 1						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAGGAGATCTGTAGGGGCA	0.438000													32	56					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267060	124267060	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:124267060A>C	ENST00000354597.3	-	1	204	c.188T>G	c.(187-189)cTc>cGc	p.L63R		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGATTGAAGAGGAAATAGTA	0.388000													30	60					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105712	105105712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:105105712G>A	ENST00000436393.2	+	21	2976	c.2735G>A	c.(2734-2736)tGg>tAg	p.W912*	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	366	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGATCAGGATGGGATCCTCAT	0.383000										HNSCC(12;0.0054)			137	93					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135480114	135480114	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:135480114C>T	ENST00000394143.1	+	20	8550	c.8259C>T	c.(8257-8259)atC>atT	p.I2753I	GPR112_ENST00000412101.1_Silent_p.I2548I|GPR112_ENST00000394141.1_Silent_p.I2548I|GPR112_ENST00000287534.4_Silent_p.I2506I|GPR112_ENST00000370652.1_Silent_p.I2753I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATGTGGAATCTCCTCCATTT	0.398000													47	14					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115487076	115487076	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:115487076G>A	ENST00000369522.3	+	24	2283	c.2043_splice	c.e24+1	p.E681_splice	SYCP1_ENST00000369518.1_Splice_Site_p.E681_splice	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	681					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TTTTGGAAGAGGTGGGAAAAA	0.264000													18	28					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506847	11506847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:11506847C>T	ENST00000500254.2	-	3	227	c.190G>A	c.(190-192)Gga>Aga	p.G64R	PRB1_ENST00000545626.1_Missense_Mutation_p.G64R|PRB1_ENST00000546254.1_Missense_Mutation_p.G64R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	247	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.607000													123	229					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053336	46053336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:46053336G>A	ENST00000536708.2	+	8	939	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.R252Q	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	252					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GTGGTGGAACGACCCCACCTC	0.602000													6	44					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933232	100933232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:100933232G>A	ENST00000325455.5	-	4	3611	c.2158C>T	c.(2158-2160)Caa>Taa	p.Q720*	PGR_ENST00000534013.1_Nonsense_Mutation_p.Q126*|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	720	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCGCCTAGTTGATTAAGACTT	0.363000													59	92					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894575	166894575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:166894575G>A	ENST00000423058.2	-	15	2674	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S886F|SCN1A_ENST00000409050.1_Missense_Mutation_p.S858F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S875F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCCCCCACGGAATTGCCGAT	0.408000													29	34					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383157	29383157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:29383157G>A	ENST00000544604.2	+	2	569	c.394G>A	c.(394-396)Gac>Aac	p.D132N	ZNRF3_ENST00000406323.3_Missense_Mutation_p.D32N|ZNRF3_ENST00000402174.1_Missense_Mutation_p.D32N|ZNRF3_ENST00000332811.4_Missense_Mutation_p.D32N	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	132						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCAGAATTGGACCCGAAACC	0.488000													12	123					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863756	55863756	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:55863756C>A	ENST00000388975.3	-	10	1265	c.1149G>T	c.(1147-1149)atG>atT	p.M383I		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	383					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTGTTGAATCATTTTAAGAT	0.413000													20	10					8.34094e-07	8.5052e-07	1	1	0
PPM1H	57460	broad.mit.edu	37	12	63087742	63087742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:63087742G>A	ENST00000228705.6	-	7	1411	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	371	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TATATAAGGGGGAACTTCAAG	0.507000													9	15					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142214	71142214	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:71142214A>G	ENST00000333538.5	+	9	2057	c.1423A>G	c.(1423-1425)Aaa>Gaa	p.K475E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	475	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAACAAGGCAAAAGACGTCTG	0.547000													122	395					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141365102	141365102	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141365102G>A	ENST00000536163.1	-	6	836	c.837C>T	c.(835-837)tgC>tgT	p.C279C	KIAA1147_ENST00000482493.1_Silent_p.C175C	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	279	Poly-Cys.									breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CGTTGGCCAAGCAGCAGCAGC	0.612000													27	47					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638258	176638258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:176638258C>T	ENST00000439151.2	+	5	2903	c.2858C>T	c.(2857-2859)tCt>tTt	p.S953F	NSD1_ENST00000354179.4_Missense_Mutation_p.S684F|NSD1_ENST00000347982.4_Missense_Mutation_p.S684F|NSD1_ENST00000361032.4_Missense_Mutation_p.S850F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	953					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTAGGAGTCTCTAAGGTTTTG	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	15					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100056719	100056719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:100056719G>A	ENST00000369214.1	+	2	538	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	PRDM13_ENST00000369215.4_Missense_Mutation_p.E83K	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	83	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACAGACTCTGGAAGCTATTGC	0.617000													17	34					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004309	74004309	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:74004309G>A	ENST00000301607.3	-	22	5230	c.4977C>T	c.(4975-4977)ctC>ctT	p.L1659L	EVPL_ENST00000586740.1_Silent_p.L1681L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1659	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGAGGTCCCGGAGCGTCCGCT	0.667000													25	39					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44836901	44836901	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:44836901G>A	ENST00000270162.6	-	14	2205	c.2073C>T	c.(2071-2073)ggC>ggT	p.G691G		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	691					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CAGCCCCAGGGCCATCACAGG	0.756000													3	0					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													5	41					1	1	1	1	0
EML3	256364	broad.mit.edu	37	11	62373339	62373339	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:62373339G>A	ENST00000394773.2	-	14	2077	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	EML3_ENST00000529309.1_Silent_p.S590S|EML3_ENST00000278845.4_Silent_p.S591S|EML3_ENST00000494176.2_Silent_p.S562S|EML3_ENST00000531557.1_Silent_p.S373S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	590						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGATTACAGGGGAGAAGCCCT	0.617000													44	57					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945508	55945508	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:55945508C>T	ENST00000394256.2	+	1	526	c.498C>T	c.(496-498)ttC>ttT	p.F166F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F166L(1)|p.F166F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGTAGATTTCTGTGTCTCCA	0.478000													53	73					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766303	91766303	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:91766303G>A	ENST00000389857.6	-	21	3833	c.3747C>T	c.(3745-3747)ggC>ggT	p.G1249G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1249					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTGGTTCTCGCCCATGGCGA	0.652000													3	2					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134173	48134173	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:48134173T>G	ENST00000405493.2	-	22	2320	c.2111A>C	c.(2110-2112)aAg>aCg	p.K704T	RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.K704T|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.K746T|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.K746T|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.K704T	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	704					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTTCTGCTCCTTGAGGCTGTG	0.587000													12	50					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404546	124404546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:124404546G>A	ENST00000303921.2	-	1	1135	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	162						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTACGCCCGGAAATGCCAGC	0.592000													106	139					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952489	14952489	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:14952489G>A	ENST00000248058.1	-	1	200	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGTCTACGAAGGACAGGTTGG	0.522000													32	66					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626418	187626418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:187626418G>A	ENST00000304698.5	+	8	1552	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	450						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACAGAAGAAAGAGTTTCCATG	0.358000													15	15					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344458	118344458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:118344458C>T	ENST00000534358.1	+	3	2607	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R862*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R862*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTCCAAAGATCGAGATGCTGA	0.488000													6	11					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044293	94044293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:94044293C>T	ENST00000553484.1	+	18	2471	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	UNC79_ENST00000393151.2_Missense_Mutation_p.R773C|UNC79_ENST00000555664.1_Missense_Mutation_p.R773C|UNC79_ENST00000256339.4_Missense_Mutation_p.R596C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	773						integral to membrane		p.R596C(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGTCCGTTTCGTAGCCCTTT	0.433000													147	99					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329386	33329386	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:33329386G>A	ENST00000374796.2	-	12	7244	c.4674C>T	c.(4672-4674)tcC>tcT	p.S1558S	NCOA6_ENST00000359003.2_Silent_p.S1558S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1558					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATGCACAAGGGATGAACACA	0.448000													64	136					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148925	125148925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:125148925G>A	ENST00000362012.2	+	9	1215	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	PTGS1_ENST00000373698.5_Missense_Mutation_p.E295K|PTGS1_ENST00000540753.1_Intron|AL162424.1_ENST00000600713.1_Missense_Mutation_p.R2C|PTGS1_ENST00000223423.4_Intron	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	404					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E404K(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GTACAGCTACGAGCAGTTCTT	0.577000													66	87					0	0	1	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84547743	84547743	+	RNA	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:84547743G>T	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							CCCAGGAGATGTCCTTCCTTA	0.423000													5	5					1.23904e-05	1.25794e-05	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32635510	32635510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:32635510G>A	ENST00000242310.4	-	1	157	c.68C>T	c.(67-69)tCg>tTg	p.S23L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	23					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCGCTGTCCGAGTCTGACAT	0.567000													61	62					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43363004	43363004	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:43363004T>A	ENST00000290650.4	-	5	726	c.648A>T	c.(646-648)gaA>gaT	p.E216D	UBR1_ENST00000382177.2_Missense_Mutation_p.E216D	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	216					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTATCTGGAGTTCAGGAGGCA	0.348000													58	103					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850564	40850564	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:40850564C>T	ENST00000255224.3	-	4	1388	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	SYT4_ENST00000590752.1_Silent_p.K322K|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	340	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GAGTCTTCTTCTTGGAGATTC	0.428000													34	52					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10267246	10267246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:10267246G>A	ENST00000360566.2	+	7	1168	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	RRM2_ENST00000304567.5_Missense_Mutation_p.G233S	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	233					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGCAGTGGAAGGCATTTTCTT	0.418000													67	104					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725437	106725437	+	RNA	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:106725437G>A	ENST00000390609.2	-	0	193																											GCACAGGAGAGTCTCAGGGAC	0.577000													67	157					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454518	100454518	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100454518C>T	ENST00000354161.3	+	5	602	c.477C>T	c.(475-477)gtC>gtT	p.V159V	SLC12A9_ENST00000428758.1_Silent_p.V159V|SLC12A9_ENST00000415287.1_Silent_p.V70V|SLC12A9_ENST00000540482.1_Silent_p.V159V|SLC12A9_ENST00000275729.3_Silent_p.V70V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	159						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTCCGGGTCCTGCCCCAGG	0.687000													60	70					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631873	156631873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:156631873G>T	ENST00000296518.7	+	6	765	c.556G>T	c.(556-558)Gag>Tag	p.E186*	GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.E186*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.E186*|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.E186*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.E186*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.E186*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	186					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGGCAGGCTTGAGGACGCCTC	0.473000													16	22					2.31682e-05	2.34704e-05	1	1	0
AP1B1	162	broad.mit.edu	37	22	29726376	29726376	+	Silent	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:29726376G>T	ENST00000357586.2	-	21	2943	c.2757C>A	c.(2755-2757)ccC>ccA	p.P919P	AP1B1_ENST00000432560.2_Silent_p.P912P|AP1B1_ENST00000317368.7_Silent_p.P892P|AP1B1_ENST00000402502.1_Silent_p.P912P|AP1B1_ENST00000405198.1_Silent_p.P919P|AP1B1_ENST00000415447.1_Silent_p.P912P|AP1B1_ENST00000356015.2_Silent_p.P912P	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	919					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGTGCAGCTGGGGTTGCCCG	0.687000													21	32					8.34094e-07	8.5052e-07	1	1	0
ZBTB22	9278	broad.mit.edu	37	6	33283159	33283159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:33283159G>A	ENST00000431845.2	-	2	1686	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P512L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCAGTCAAACGGCCGCAGATT	0.547000													69	15					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1586835	1586835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:1586835G>A	ENST00000407249.3	-	2	214	c.215C>T	c.(214-216)tCt>tTt	p.S72F	CDK11B_ENST00000341832.6_Missense_Mutation_p.S38F|CDK11B_ENST00000317673.7_Missense_Mutation_p.S72F|CDK11B_ENST00000340677.5_Missense_Mutation_p.S72F			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	72					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GTCTTCCATAGAGTCTTCTCT	0.552000													15	19					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118726448	118726448	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:118726448G>T	ENST00000371527.1	-	1	665	c.13C>A	c.(13-15)Ctc>Atc	p.L5I	NKRF_ENST00000304449.5_Missense_Mutation_p.L5I|NKRF_ENST00000542113.1_Missense_Mutation_p.L20I	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	5	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCCATTTGGAGAATTTTTTCC	0.378000													4	32					0.014758	0.0148858	1	1	0
TSEN54	283989	broad.mit.edu	37	17	73519416	73519416	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:73519416G>A	ENST00000333213.6	+	9	1349	c.1313_splice	c.e9+1	p.R438_splice		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	438					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGGTGCCCGGTAAGTTTCC	0.537000													4	130					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834497	101834497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:101834497C>T	ENST00000506729.1	-	1	223	c.52G>A	c.(52-54)Gga>Aga	p.G18R	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G18R|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G18R|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G18R|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G18R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	18						integral to membrane|plasma membrane	transporter activity	p.G18*(1)|p.G18R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCTCTACTCCCCTTGAGACT	0.672000													22	105					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750833	94750833	+	Silent	SNP	C	C	T	rs149770942		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:94750833C>T	ENST00000306011.3	+	1	792	c.756C>T	c.(754-756)acC>acT	p.T252T		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	252					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAACGCGACCGCAGCTGGGG	0.716000													9	10					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158177966	158177966	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:158177966C>T	ENST00000410096.1	-	3	963	c.672G>A	c.(670-672)gaG>gaA	p.E224E	ERMN_ENST00000397283.2_Silent_p.E237E|ERMN_ENST00000420719.2_Silent_p.E204E|ERMN_ENST00000535935.1_Silent_p.E118E	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	224						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GTGGGGAGTCCTCACTTGCAT	0.408000													86	119					0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42384974	42384974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42384974C>T	ENST00000221972.3	+	5	793	c.608C>T	c.(607-609)tCc>tTc	p.S203F	CD79A_ENST00000444740.2_Missense_Mutation_p.S165F	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	203	ITAM.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GAGGACATCTCCCGGGGCCTC	0.632000			"""O, S"""		DLBCL								13	17					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696531	49696531	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:49696531T>C	ENST00000433368.2	-	8	788	c.719A>G	c.(718-720)aAa>aGa	p.K240R	CRISP3_ENST00000423399.2_Missense_Mutation_p.K127R|CRISP3_ENST00000393666.1_Missense_Mutation_p.K217R|CRISP3_ENST00000263045.4_Missense_Mutation_p.K230R|CRISP3_ENST00000371159.4_Missense_Mutation_p.K248R	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	217					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTCAAACTTTTACAGTTACT	0.353000													37	11					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296616	9296616	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:9296616C>T	ENST00000344248.2	+	1	338	c.159C>T	c.(157-159)tcC>tcT	p.S53S		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	53					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCTCTGACTCCCACCTCCACA	0.532000													63	97					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371641	31371641	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:31371641T>C	ENST00000268296.4	+	8	839	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	ITGAX_ENST00000562522.1_Missense_Mutation_p.F240L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	240	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCACCGATTGTTCCATGCCTC	0.488000													44	69					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9543557	9543557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:9543557C>T	ENST00000378429.3	-	7	2143	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	PAK7_ENST00000353224.5_Missense_Mutation_p.D533N|PAK7_ENST00000378423.1_Missense_Mutation_p.D533N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	533	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTCACAATGTCTGTCAAGGCA	0.473000													41	72					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060701	16060701	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:16060701G>C	ENST00000322107.1	+	1	884	c.884G>C	c.(883-885)aGg>aCg	p.R295T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCAGCCTAAGGAACAAGGAG	0.443000													73	80					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141805657	141805657	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141805657A>C	ENST00000475668.2	+	71	8282	c.8228A>C	c.(8227-8229)aAt>aCt	p.N2743T	MGAM_ENST00000549489.2_Missense_Mutation_p.N1847T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1847					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCCTACATAATTTTACTTCA	0.358000													106	106					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76950119	76950119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:76950119G>A	ENST00000257626.7	-	26	2090	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		AAATTCAGCAGCACTGCCACG	0.448000													3	91					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95654216	95654216	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:95654216G>A	ENST00000433389.2	+	2	355	c.165G>A	c.(163-165)ccG>ccA	p.P55P	ESRP1_ENST00000358397.5_Silent_p.P55P|ESRP1_ENST00000423620.2_Silent_p.P55P|ESRP1_ENST00000454170.2_Silent_p.P55P	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	55					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TAGTTAGACCGGATCAGTTGG	0.552000													22	78					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138827914	138827914	+	Silent	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:138827914A>G	ENST00000370557.1	-	25	3949	c.2922T>C	c.(2920-2922)ctT>ctC	p.L974L	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.L980L|ATP11C_ENST00000327569.3_Silent_p.L980L|ATP11C_ENST00000370543.1_Silent_p.L980L|ATP11C_ENST00000361648.2_Silent_p.L980L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	980					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGTCTGAAAAAGAAAGTAAG	0.403000													11	5					0	0	1	0	0
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443000													4	127					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133963161	133963161	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:133963161G>A	ENST00000361069.4	+	27	4567	c.4434G>A	c.(4432-4434)ctG>ctA	p.L1478L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1478	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTATCTCACTGGAGAAGGACA	0.612000													25	38					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35258649	35258649	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:35258649G>A	ENST00000381318.3	+	39	5190	c.4902G>A	c.(4900-4902)acG>acA	p.T1634T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.T1573T|ITSN1_ENST00000399367.3_Silent_p.T1629T|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.T1634T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1634	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCACCAAGACGATCCAGGACA	0.552000													25	45					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062298	216062298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:216062298G>A	ENST00000366943.2	-	41	8079	c.7693C>T	c.(7693-7695)Cat>Tat	p.H2565Y	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.H2565Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2565	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTTATAATGGGTAATAACC	0.418000										HNSCC(13;0.011)			57	68					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39328223	39328223	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:39328223T>A	ENST00000381897.1	-	6	735	c.602A>T	c.(601-603)gAa>gTa	p.E201V	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.E201V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	201					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCGATGGCTTCATCATTTAA	0.333000													24	31					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253052	124253052	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:124253052A>C	ENST00000375013.2	-	1	206	c.188T>G	c.(187-189)cTc>cGc	p.L63R		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGATTGAAGAGGAAATAGTA	0.393000													6	115					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661598	2661598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:2661598C>T	ENST00000324666.5	+	8	1040	c.689C>T	c.(688-690)cCc>cTc	p.P230L	FAM193A_ENST00000545951.1_Missense_Mutation_p.P230L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P230L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P254L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P230L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	230										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGGACCCCCCCGTCACTGAT	0.527000													78	92					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													25	34					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241991774	241991774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:241991774C>T	ENST00000310397.8	+	15	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	SNED1_ENST00000401884.1_Missense_Mutation_p.P658S|SNED1_ENST00000342631.6_Missense_Mutation_p.P658S|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.P658S	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	658	EGF-like 10.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTGGCAGCCCCCTCCCCCTG	0.657000													14	22					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176997	140176997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140176997G>A	ENST00000378132.1	+	1	2554	c.2448G>A	c.(2446-2448)atG>atA	p.M816I	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031495.1	NP_113683.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTCTATATGATTTCTACTA	0.279000													7	13					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	rs145586123		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:43851148G>A	ENST00000372769.3	+	2	965	c.875G>A	c.(874-876)cGt>cAt	p.R292H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398000													33	40					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208171	113208171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:113208171G>A	ENST00000401783.2	-	26	4745	c.4409C>T	c.(4408-4410)tCc>tTc	p.S1470F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1447F|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.S1470F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1470	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACTGCATAGGAGATTGGTGT	0.458000													58	74					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25435432	25435432	+	Silent	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:25435432T>G	ENST00000255324.5	+	27	3853	c.3801T>G	c.(3799-3801)acT>acG	p.T1267T	RNF17_ENST00000381921.1_Silent_p.T1267T|RNF17_ENST00000339524.3_Silent_p.T319T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1267	Tudor 3.				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)		ATGGATTCACTGAAAAGATTC	0.348000													60	221					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411657	2411657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:2411657G>A	ENST00000202625.2	+	12	2012	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	651					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTTCTCCAGGAACAGCTCAG	0.592000													33	44					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964130	73964130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:73964130C>T	ENST00000373468.1	-	3	913	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E88K			Q5QGS0	K2022_HUMAN	KIAA2022	88					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGCATGTTCGGGTGCTTCA	0.512000													37	8					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925230	118925230	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:118925230C>T	ENST00000404233.3	-	7	778	c.654G>A	c.(652-654)cgG>cgA	p.R218R	HYOU1_ENST00000529972.1_Silent_p.R218R|HYOU1_ENST00000525859.1_Silent_p.R218R|HYOU1_ENST00000543287.1_Silent_p.R131R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	218						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TAATATCTTTCCGGCGGAAGA	0.567000													56	81					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183523	197183523	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:197183523C>T	ENST00000260983.2	-	9	2273	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S	HECW2_ENST00000409111.1_Silent_p.S341S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGATTCCTGCGACCCTTCGG	0.612000													12	30					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157556085	157556085	+	Silent	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:157556085A>C	ENST00000271532.1	-	6	1143	c.1008T>G	c.(1006-1008)acT>acG	p.T336T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	336	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGGAACGCTGAGTTTTCCTCC	0.587000													46	57					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945297	150945297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:150945297C>T	ENST00000261800.5	-	1	3208	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1066	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACTGGAGCTCCCCATCCAAG	0.622000													24	19					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323832	52323832	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:52323832G>A	ENST00000356297.4	-	16	2140	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L	PXDNL_ENST00000543296.1_Silent_p.L680L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	680					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTCCACAGTGAGCCCCTGCT	0.512000													15	7					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.K508K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													3	103					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999715	55999715	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:55999715A>T	ENST00000313264.4	-	1	1022	c.947T>A	c.(946-948)tTt>tAt	p.F316Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATGGTGTAAAATATTGACAC	0.383000													71	88					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167343506	167343506	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:167343506C>T	ENST00000367862.5	+	6	766	c.531C>T	c.(529-531)ccC>ccT	p.P177P	POU2F1_ENST00000541643.3_Silent_p.P165P|POU2F1_ENST00000452019.1_Silent_p.P165P|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367866.2_Silent_p.P188P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Silent_p.P165P	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	165					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CGCAGATCCCCCTGTCTCAGC	0.562000													17	20					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454874	84454874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:84454874C>T	ENST00000377084.2	-	1	1654	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	257	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAGTCCTGTTCGGTGGTTTCA	0.547000													29	43					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41736918	41736918	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:41736918G>A	ENST00000301178.4	+	5	823	c.633G>A	c.(631-633)aaG>aaA	p.K211K	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Silent_p.K211K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	211	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATAACGCCAAGGGGGTCACCA	0.602000													82	113					0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67812508	67812508	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:67812508G>A	ENST00000216442.7	-	6	983	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	ATP6V1D_ENST00000554236.1_Silent_p.L145L|ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000555431.1_Silent_p.L90L	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	145					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AGTTCCACCAGTAGTTCCACT	0.453000													35	42					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860459	13860459	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:13860459C>T	ENST00000285018.4	-	4	1336	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	344					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACGTGTACATCTCCGTGCGCT	0.607000													20	21					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952707	50952707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:50952707G>A	ENST00000374103.4	-	13	1806	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	OGDHL_ENST00000432695.1_Missense_Mutation_p.S365F|OGDHL_ENST00000419399.1_Missense_Mutation_p.S517F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	574					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCCAGGGGGAGTCCAACCA	0.547000													36	8					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785063	207785063	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:207785063C>T	ENST00000367049.4	+	38	6337	c.6337C>T	c.(6337-6339)Cta>Tta	p.L2113L	CR1_ENST00000367051.1_Silent_p.L1663L|CR1_ENST00000367052.1_Silent_p.L1663L|CR1_ENST00000400960.2_Silent_p.L1663L|CR1_ENST00000367053.1_Silent_p.L1663L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1663					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGAGCATACCCTAAGCCATCA	0.522000													67	109					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89151388	89151388	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:89151388T>C	ENST00000554922.1	-	20	3201	c.2953A>G	c.(2953-2955)Aaa>Gaa	p.K985E	EML5_ENST00000352093.5_Missense_Mutation_p.K947E|EML5_ENST00000380664.5_Missense_Mutation_p.K985E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	985						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCCACTTTTATCCACTTCT	0.313000													47	80					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005600	42005600	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:42005600A>C	ENST00000395925.3	-	15	3155	c.3071T>G	c.(3070-3072)tTc>tGc	p.F1024C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1024					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGGCTGCTGAAGCGCGGCAC	0.726000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				14	24					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263716	3263716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:3263716G>A	ENST00000520002.1	-	16	2657	c.2102C>T	c.(2101-2103)cCt>cTt	p.P701L	CSMD1_ENST00000542608.1_Missense_Mutation_p.P700L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P701L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P700L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P701L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P701L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P700L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	701	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGAATGCCAGGATCATGGCA	0.388000													4	8					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70550817	70550817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:70550817C>T	ENST00000260128.4	+	20	3082	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	SULF1_ENST00000402687.4_Missense_Mutation_p.L789F|SULF1_ENST00000419716.3_Missense_Mutation_p.L789F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.L789F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	789					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCATAATTTTCTTTTCTGTGA	0.348000													69	33					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454787	96454787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:96454787G>A	ENST00000285979.6	+	4	794	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E199K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TAACTTGATGGAAAAATTCAA	0.388000													21	8					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391586	22391586	+	Splice_Site	SNP	A	A	T	rs140368718		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:22391586A>T	ENST00000263160.3	+	8	1330	c.891_splice	c.e8-1	p.K298_splice		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	298					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAATTTCAGAAATTCAAGACT	0.333000													9	7					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037492	87037492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:87037492G>A	ENST00000265723.4	-	25	3251	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCB4_ENST00000453593.1_Missense_Mutation_p.A1000V|ABCB4_ENST00000359206.3_Missense_Mutation_p.A1047V|ABCB4_ENST00000358400.3_Missense_Mutation_p.A1000V|ABCB4_ENST00000545634.1_Missense_Mutation_p.A1047V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1047	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGGCACGTTTGCTCGGGTGGG	0.468000													66	72					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358231	57358231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:57358231G>T	ENST00000374900.4	+	4	733	c.613G>T	c.(613-615)Gga>Tga	p.G205*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	205						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TATTGTAGGTGGAAGTTCTGG	0.343000										HNSCC(52;0.14)			66	18					4.00405e-42	4.17424e-42	1	1	0
OR9A4	130075	broad.mit.edu	37	7	141619135	141619135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141619135C>T	ENST00000548136.1	+	1	519	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTTTGGGTTTCTTTTTCAAAT	0.423000													131	138					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1047197	1047197	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:1047197C>T	ENST00000263094.6	+	15	2118	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	ABCA7_ENST00000435683.2_Silent_p.F491F|ABCA7_ENST00000433129.1_Silent_p.F629F|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	629					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGTCTTCCTGTTCTTGG	0.687000													9	21					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797188	20797188	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:20797188G>A	ENST00000356192.6	-	5	1052	c.432C>T	c.(430-432)atC>atT	p.I144I	GJB6_ENST00000241124.6_Silent_p.I144I|GJB6_ENST00000400066.3_Silent_p.I144I|GJB6_ENST00000400065.3_Silent_p.I144I	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	144					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CTTCAAAGATGATTCGGAAAA	0.463000													26	35					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798354	185798354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:185798354G>A	ENST00000302277.6	+	3	874	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	94						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAACAAAGGGAATTTGCTCG	0.358000													14	34					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827191	72827191	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:72827191G>A	ENST00000268489.5	-	9	10062	c.9390C>T	c.(9388-9390)aaC>aaT	p.N3130N	ZFHX3_ENST00000397992.5_Silent_p.N2216N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3130					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGAGGGGCTGTTGAGGCCCG	0.542000													5	143					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633430	8633430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:8633430G>A	ENST00000381196.4	-	11	782	c.239C>T	c.(238-240)tCa>tTa	p.S80L	PTPRD_ENST00000360074.4_Missense_Mutation_p.S80L|PTPRD_ENST00000397617.3_Missense_Mutation_p.S80L|PTPRD_ENST00000397611.3_Missense_Mutation_p.S80L|PTPRD_ENST00000463477.1_Missense_Mutation_p.S80L|PTPRD_ENST00000356435.5_Missense_Mutation_p.S80L|PTPRD_ENST00000397606.3_Missense_Mutation_p.S80L|PTPRD_ENST00000355233.5_Missense_Mutation_p.S80L|PTPRD_ENST00000540109.1_Missense_Mutation_p.S80L|PTPRD_ENST00000537002.1_Missense_Mutation_p.S80L|PTPRD_ENST00000358503.5_Missense_Mutation_p.S80L|PTPRD_ENST00000486161.1_Missense_Mutation_p.S80L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	80	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGAGAACTGATCCAGACCC	0.428000										TSP Lung(15;0.13)			25	23					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102984232	102984232	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:102984232G>A	ENST00000504592.1	+	17	2522	c.2103_splice	c.e17-1	p.E702_splice	BANK1_ENST00000508653.1_Splice_Site_p.E584_splice|BANK1_ENST00000428908.1_Splice_Site_p.E584_splice|BANK1_ENST00000444316.2_Splice_Site_p.E687_splice|BANK1_ENST00000322953.4_Splice_Site_p.E717_splice			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	717					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)		CCACATTAAGGAGAAATTACG	0.338000													13	29					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	69					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147231317	147231317	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:147231317G>A	ENST00000271348.2	-	2	191	c.30C>T	c.(28-30)ttC>ttT	p.F10F	GJA5_ENST00000369237.1_Silent_p.F10F	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	10					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTTCCTCCAGGAAATTTCCCA	0.512000													37	70					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764696	90764696	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:90764696C>T	ENST00000411539.2	+	6	953	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SEMA4B_ENST00000379122.3_Silent_p.S226S|SEMA4B_ENST00000332496.6_Silent_p.S231S	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAGAGCTCCCTCAACTGGC	0.617000											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201369527	201369527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:201369527G>A	ENST00000359878.3	-	3	826	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.H106Y	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	106						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTGGCCAAATGGTCAGACAGG	0.378000													31	47					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72981320	72981320	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:72981320T>G	ENST00000262209.4	-	3	589	c.382A>C	c.(382-384)Aac>Cac	p.N128H		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	128						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGTTGAAGTTTCGGAGATTT	0.478000													115	274					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321227	79321227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:79321227G>T	ENST00000428286.1	-	8	6086	c.4886C>A	c.(4885-4887)tCa>tAa	p.S1629*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.S1988*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1988					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCATTAGTTGAAACATTAGA	0.423000													4	87					0.150653	0.151303	1	1	0
MUC15	143662	broad.mit.edu	37	11	26586930	26586930	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:26586930T>A	ENST00000436318.2	-	2	690	c.557A>T	c.(556-558)aAa>aTa	p.K186I	MUC15_ENST00000527569.1_Missense_Mutation_p.K186I|MUC15_ENST00000281268.8_Missense_Mutation_p.K186I|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.K186I|MUC15_ENST00000455601.2_Missense_Mutation_p.K159I			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	159						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATCAGGAGTTTTCACGGTGTC	0.453000													34	34					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409601	77409601	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:77409601A>T	ENST00000308488.6	-	7	2948	c.2646T>A	c.(2644-2646)agT>agA	p.S882R	RSF1_ENST00000360355.2_Missense_Mutation_p.S851R|RSF1_ENST00000480887.1_Missense_Mutation_p.S630R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	882	Poly-Glu.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGCTTCTTCACTTTCCTTTT	0.428000													60	83					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71542944	71542944	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:71542944G>A	ENST00000304743.2	+	28	5591	c.5145G>A	c.(5143-5145)gaG>gaA	p.E1715E	PCNX_ENST00000439984.3_Silent_p.E1604E|PCNX_ENST00000238570.5_Silent_p.E1643E	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1715						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTAAGCTAGAGGAGTGGCTAG	0.373000													33	114					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313343	48313343	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:48313343T>A	ENST00000435803.1	+	17	4104	c.4080T>A	c.(4078-4080)gaT>gaA	p.D1360E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1360					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						TTTTAGAAGATGGCTTTTTAT	0.328000													8	12					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505387	228505387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:228505387G>A	ENST00000570156.2	+	63	16729	c.16655G>A	c.(16654-16656)cGt>cAt	p.R5552H	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4595H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1714H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2229H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4595H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4595					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TACCGCTTCCGTGTGGCAGCT	0.672000													37	59					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283529	47283529	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:47283529C>T	ENST00000467728.1	+	6	2186	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Silent_p.L271L|NR1H3_ENST00000407404.1_Silent_p.L256L|NR1H3_ENST00000441012.2_Silent_p.L316L|NR1H3_ENST00000481889.2_Silent_p.L335L|NR1H3_ENST00000405853.3_Silent_p.L256L|NR1H3_ENST00000527949.1_Silent_p.L165L|NR1H3_ENST00000405576.1_Silent_p.L211L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	316	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCACCTTCCTCAAGGATTTCA	0.493000													82	129					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60023955	60023955	+	Silent	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:60023955A>T	ENST00000397786.2	-	30	6475	c.6399T>A	c.(6397-6399)gtT>gtA	p.V2133V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2133					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACTGTTCCAAAACAAACCTGA	0.393000													25	35					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615206	73615206	+	Silent	SNP	G	G	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:73615206G>C	ENST00000261917.3	-	8	4221	c.3228C>G	c.(3226-3228)ccC>ccG	p.P1076P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1076	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGAGGCGGCCGGGGGTGAGCG	0.731000													2	13					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399761	76399761	+	Silent	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:76399761T>G	ENST00000262764.6	+	7	1019	c.993T>G	c.(991-993)ctT>ctG	p.L331L	PGS1_ENST00000329897.7_Silent_p.L196L|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	331					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCAACTCTCTTTTGACCCAGG	0.542000													49	73					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71503549	71503549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:71503549G>A	ENST00000396073.3	+	8	858	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ENAM_ENST00000472903.1_3'UTR	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	193					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAGCAATGAAGAAGGGGG	0.423000													63	84					0	0	1	0	0
CBWD1	55871	broad.mit.edu	37	9	156500	156500	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:156500G>T	ENST00000377447.3	-	7	611	c.556C>A	c.(556-558)Ctt>Att	p.L186I	CBWD1_ENST00000314367.10_Missense_Mutation_p.L150I|CBWD1_ENST00000377400.4_Missense_Mutation_p.L186I|CBWD1_ENST00000356521.4_Missense_Mutation_p.L186I|CBWD1_ENST00000382447.4_Missense_Mutation_p.L186I			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	186							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCATTGATAAGGCCATCAGGT	0.269000													19	32					2.08457e-15	2.14439e-15	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	58					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724229	34724229	+	Silent	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:34724229T>A	ENST00000360581.1	+	2	341	c.213T>A	c.(211-213)ctT>ctA	p.L71L	NPSR1_ENST00000381553.3_Silent_p.L71L|NPSR1_ENST00000465305.1_Silent_p.L71L|NPSR1_ENST00000381539.3_Silent_p.L71L|NPSR1_ENST00000531252.1_Silent_p.L71L|NPSR1_ENST00000359791.1_Silent_p.L71L|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.L71L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	71						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCGTTGTGCTTTTTTCCACAT	0.423000													54	90					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	395372	395372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:395372G>A	ENST00000280886.6	-	25	3095	c.3008C>T	c.(3007-3009)aCc>aTc	p.T1003I		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1003						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGCACGCAGGTCAGCGAGTT	0.607000													26	8					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63353939	63353939	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:63353939G>C	ENST00000357980.4	+	7	796	c.717G>C	c.(715-717)ttG>ttC	p.L239F	TPM1_ENST00000560445.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.L197F|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000334895.5_Missense_Mutation_p.L161F|TPM1_ENST00000559556.1_Missense_Mutation_p.L197F|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000267996.7_Missense_Mutation_p.L197F|TPM1_ENST00000559281.1_Missense_Mutation_p.L161F|TPM1_ENST00000560959.1_Intron			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	197					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AAGAAGAATTGAAAACTGTGA	0.483000													4	98					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81584972	81584972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:81584972C>T	ENST00000394660.2	+	12	1856	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	IL16_ENST00000302987.4_Missense_Mutation_p.P499L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	499					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGCACCCCCGCATCGCAGG	0.587000													18	44					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175066	57175066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:57175066C>T	ENST00000537055.2	-	2	1732	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAAGGCGTCCCGAACTGTCT	0.647000													184	32					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878302	2878302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:2878302G>A	ENST00000586426.1	+	4	1430	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	ZNF556_ENST00000307635.2_Missense_Mutation_p.G449E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCACACAGGAAAGAAATCC	0.453000													38	63					0	0	1	0	0
ERH	2079	broad.mit.edu	37	14	69847262	69847262	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:69847262C>G	ENST00000557016.1	-	4	701	c.308G>C	c.(307-309)gGg>gCg	p.G103A	ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	103					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		CAATTATTTCCCAGCCTGTTG	0.493000													86	147					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223529	36223529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:36223529G>T	ENST00000420124.1	+	28	6079	c.6079G>T	c.(6079-6081)Gag>Tag	p.E2027*	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Nonsense_Mutation_p.E2027*																							CTCCGAGGAGGAGTCCAGCCC	0.697000													22	1					9.95505e-16	1.02634e-15	1	1	0
ACTB	60	broad.mit.edu	37	7	5568832	5568832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:5568832G>A	ENST00000331789.5	-	3	514	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	108					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTTCAGGGGGGCCTCGGTCAG	0.637000													57	42					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068426	5068426	+	Missense_Mutation	SNP	G	G	A	rs146686931		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5068426G>A	ENST00000380370.1	+	1	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACATTCTCCGTGCTGTCTTC	0.448000													55	69					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517327	140517327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140517327C>T	ENST00000231134.5	+	1	2528	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		771					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGATTATTCCTAACCTTTT	0.532000													61	114					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25459515	25459515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:25459515G>A	ENST00000381884.4	-	13	3561	c.3376C>T	c.(3376-3378)Ccc>Tcc	p.P1126S	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1126					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGCTCCCTGGGAGAGGCAGCC	0.443000													37	81					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70488373	70488373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:70488373C>T	ENST00000260128.4	+	6	1058	c.341C>T	c.(340-342)tCc>tTc	p.S114F	SULF1_ENST00000402687.4_Missense_Mutation_p.S114F|SULF1_ENST00000419716.3_Missense_Mutation_p.S114F|SULF1_ENST00000458141.2_Missense_Mutation_p.S114F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	114					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AACTGCTCTTCCCCCTCGTGG	0.512000													30	98					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086319	55086319	+	Silent	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:55086319A>C	ENST00000251377.3	+	5	607	c.474A>C	c.(472-474)ggA>ggC	p.G158G	LILRA2_ENST00000391737.1_Silent_p.G146G|LILRA2_ENST00000391738.3_Silent_p.G158G|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.G158G|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTAAGGAAGGAGAAGATGAAC	0.597000													66	78					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187989	121187989	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:121187989T>G	ENST00000321339.1	+	1	340	c.331T>G	c.(331-333)Ttc>Gtc	p.F111V		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	111	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTGAACAACTTCTCCAGGTA	0.587000													20	21					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903229	6903229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:6903229G>A	ENST00000486284.1	+	1	428	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	GRM7_ENST00000402647.2_Missense_Mutation_p.G52R|GRM7_ENST00000403881.1_Missense_Mutation_p.G52R|GRM7_ENST00000389336.4_Missense_Mutation_p.G52R|GRM7_ENST00000357716.4_Missense_Mutation_p.G52R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	52					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)	CGTCACCCTCGGGGGGCTGTT	0.697000													5	2					0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33478982	33478982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:33478982G>A	ENST00000373449.2	-	6	561	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	AK2_ENST00000354858.6_Missense_Mutation_p.R174C|AK2_ENST00000548033.1_Missense_Mutation_p.R132C|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000467905.1_Missense_Mutation_p.R174C|RP1-117O3.2_ENST00000427524.1_RNA	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	174					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCTGATCGACGGATCAAGGGT	0.483000													12	16					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903230	6903230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:6903230G>A	ENST00000486284.1	+	1	429	c.155G>A	c.(154-156)gGg>gAg	p.G52E	GRM7_ENST00000402647.2_Missense_Mutation_p.G52E|GRM7_ENST00000403881.1_Missense_Mutation_p.G52E|GRM7_ENST00000389336.4_Missense_Mutation_p.G52E|GRM7_ENST00000357716.4_Missense_Mutation_p.G52E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	52					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)	GTCACCCTCGGGGGGCTGTTC	0.697000													5	3					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													3	151					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	C	T	rs145165680		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:151598433C>T	ENST00000362032.4	+	3	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000													72	115					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159842	170159842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:170159842G>A	ENST00000328939.4	+	6	1011	c.474G>A	c.(472-474)atG>atA	p.M158I	KCNIP1_ENST00000434108.1_Missense_Mutation_p.M183I|KCNIP1_ENST00000520740.1_Missense_Mutation_p.M130I|KCNIP1_ENST00000377360.4_Missense_Mutation_p.M167I|KCNIP1_ENST00000390656.4_Missense_Mutation_p.M158I|KCNIP1_ENST00000411494.1_Missense_Mutation_p.M169I	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	169	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGACATGATGGGGAAATACA	0.488000													54	78					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883511	145883511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:145883511G>A	ENST00000296702.5	+	18	2710	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R870K	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	891					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCGAGAGAGAGAGCAGCAC	0.423000													22	43					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342718	220342718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:220342718G>A	ENST00000312358.7	+	22	5050	c.4918G>A	c.(4918-4920)Gca>Aca	p.A1640T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1640	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAAGCCAAAGGCATCAGCGCG	0.637000													70	89					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677071	100677071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100677071G>A	ENST00000306151.4	+	3	2438	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	792	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACCACTGAAGGTACCAG	0.483000													186	685					0	0	1	0	0
ZNF726	730087	broad.mit.edu	37	19	24102841	24102841	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:24102841G>A	ENST00000594466.1	+	3	288	c.183G>A	c.(181-183)gaG>gaA	p.E61E	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000531821.2_Silent_p.E61E|ZNF726_ENST00000525354.2_Silent_p.E61E|ZNF726_ENST00000575986.1_Silent_p.E61E|ZNF726_ENST00000334589.5_Silent_p.E61E|ZNF726_ENST00000322487.7_Silent_p.E61E	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	61					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										AAGAAAAAGAGCCCTGGAATA	0.413000													39	36					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14775813	14775813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:14775813C>T	ENST00000403951.2	-	5	594	c.175G>A	c.(175-177)Gat>Aat	p.D59N	DGKB_ENST00000258767.5_Missense_Mutation_p.D59N|DGKB_ENST00000402815.1_Missense_Mutation_p.D59N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.D59N|DGKB_ENST00000406247.3_Missense_Mutation_p.D59N|DGKB_ENST00000407950.1_Missense_Mutation_p.D52N|DGKB_ENST00000444700.2_Missense_Mutation_p.D52N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	59					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCTTCAAAATCTATTGTCTGG	0.338000													4	17					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454930	29454930	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:29454930G>A	ENST00000377127.3	-	1	808	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	250						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGCAGCACAGGAATCTAATGA	0.522000													19	8					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766821	77766821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:77766821C>T	ENST00000521891.2	+	10	8112	c.7664C>T	c.(7663-7665)tCc>tTc	p.S2555F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2529F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2510F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2510F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2510						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)			CTGGGCAGTTCCCTCACTCAA	0.507000										HNSCC(33;0.089)			53	84					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125074092	125074092	+	Splice_Site	SNP	G	G	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:125074092G>C	ENST00000522917.1	+	25	3353		c.e25-1		FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)							integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCTCTGCAGGAACTGCCTG	0.582000													60	88					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21667100	21667100	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:21667100G>T	ENST00000425654.2	+	20	3234	c.2754G>T	c.(2752-2754)atG>atT	p.M918I	CNKSR2_ENST00000379510.3_Missense_Mutation_p.M948I	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	948					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATCCTGTAATGAATGAAAAAC	0.368000													3	73					1	1	1	1	0
NRK	203447	broad.mit.edu	37	X	105137924	105137924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:105137924G>A	ENST00000428173.2	+	6	781	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	NRK_ENST00000243300.9_Missense_Mutation_p.E160K|NRK_ENST00000536164.1_Missense_Mutation_p.E160K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	160	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATCTGCCGAGAAATCCTTCA	0.398000										HNSCC(51;0.14)			10	1					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968190	35968190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:35968190G>A	ENST00000274278.3	-	3	599	c.242C>T	c.(241-243)tCa>tTa	p.S81L	UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	81						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)			ATCTTCAGGTGAAAACCACCT	0.318000													9	29					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416220	86416220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:86416220G>A	ENST00000361669.2	+	3	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_ENST00000394720.2_Missense_Mutation_p.R369H|GRM3_ENST00000439827.1_Missense_Mutation_p.R371H|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R243H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	371					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCACAGGCGCGTCTGCGAC	0.567000													57	53					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619788	48619788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:48619788C>T	ENST00000328333.8	-	46	4710	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	COL7A1_ENST00000454817.1_Missense_Mutation_p.E1535K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1535	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGACCAGGCTCCCCCTGTGGA	0.607000													67	83					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125061865	125061865	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:125061865G>A	ENST00000522917.1	+	22	2948	c.2742G>A	c.(2740-2742)ttG>ttA	p.L914L	FER1L6_ENST00000399018.1_Silent_p.L914L|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	914	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGAATATTTGGGTGCCACAG	0.468000													42	24					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027667	161027667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:161027667C>T	ENST00000447678.1	-	18	2747	c.2627G>A	c.(2626-2628)aGg>aAg	p.R876K	LPA_ENST00000316300.5_Missense_Mutation_p.R876K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3384	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGGATTCCTGCAGTAGTT	0.517000													101	113					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748267	36748267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:36748267C>T	ENST00000354618.5	+	3	327	c.103C>T	c.(103-105)Cga>Tga	p.R35*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R35*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	35	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCCGAAGCCGATCTCTCTC	0.458000			T	USP6	aneurysmal bone cysts								41	57					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588422	93588422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:93588422C>T	ENST00000329082.7	-	4	1430	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	RGMA_ENST00000556658.1_Missense_Mutation_p.D278N|RGMA_ENST00000538818.1_Missense_Mutation_p.D278N|RGMA_ENST00000542321.2_Missense_Mutation_p.D371N|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Missense_Mutation_p.D371N|RGMA_ENST00000557301.1_Missense_Mutation_p.D395N|RGMA_ENST00000425933.2_Missense_Mutation_p.D371N	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	387					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AAGTTCACGTCGCCCGTGGTG	0.577000													5	8					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004063	155004063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:155004063C>T	ENST00000302805.2	+	2	961	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	177	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCTTTGCTCTGCTGAGAGC	0.582000													73	96					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463950	104463950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:104463950G>A	ENST00000372578.3	-	3	1039	c.928C>T	c.(928-930)Cct>Tct	p.P310S	TEX13A_ENST00000372575.1_Missense_Mutation_p.P310S|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.S309F	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGAGAAGGAGGAAAAAGGGCT	0.527000													23	2					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				51	84					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348353	140348353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140348353C>T	ENST00000289269.5	+	1	2534	c.2002C>T	c.(2002-2004)Cca>Tca	p.P668S	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		668	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGAGAGCCATCACTATC	0.507000													14	65					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000													36	46					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22132418	22132418	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:22132418C>T	ENST00000389398.5	+	13	1342	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	416						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTCAATGGTCTGAAAGGTAA	0.507000													32	58					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52523799	52523799	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:52523799G>A	ENST00000242839.4	-	12	3020	c.2865_splice	c.e12+1	p.P955_splice	ATP7B_ENST00000400366.3_Splice_Site_p.P844_splice|ATP7B_ENST00000418097.2_Splice_Site_p.P955_splice|ATP7B_ENST00000448424.2_Splice_Site_p.P877_splice|ATP7B_ENST00000417240.2_Splice_Site_p.P227_splice|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Splice_Site_p.P525_splice|ATP7B_ENST00000482841.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	955					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCAACTTACAGGAAAGTATCT	0.353000									Wilson disease				42	66					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44736600	44736600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:44736600C>T	ENST00000222673.5	+	15	2030	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	OGDH_ENST00000543843.1_Missense_Mutation_p.S614L|OGDH_ENST00000449767.1_Missense_Mutation_p.S659L|OGDH_ENST00000447398.1_Missense_Mutation_p.S674L|OGDH_ENST00000444676.1_Missense_Mutation_p.S678L|OGDH_ENST00000439616.2_Missense_Mutation_p.S513L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	663					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGTTTGGCTCGCTCCTGAAG	0.582000													49	60					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784267	22784267	+	RNA	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:22784267G>A	ENST00000600260.1	+	0	701				RN7SL860P_ENST00000473738.2_RNA	NR_033899.1																						GAAGAGGAGGGAGCCCAGGAG	0.572000													7	5					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157551	22157551	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:22157551G>A	ENST00000397126.4	-	4	433	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF208_ENST00000599916.1_Silent_p.F95F|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACTTTTTGGAAAGAATCTT	0.333000													12	19					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46490500	46490500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:46490500C>T	ENST00000231751.4	-	9	1361	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	LTF_ENST00000426532.2_Missense_Mutation_p.E312K|LTF_ENST00000417439.1_Missense_Mutation_p.E356K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	356					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAGCCACTTCCTCCTCACCT	0.662000													14	22					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494606	111494606	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:111494606A>C	ENST00000369763.4	-	2	1290	c.900T>G	c.(898-900)ttT>ttG	p.F300L	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	300					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						GAGATGGCGTAAAAGGCTGTA	0.338000													31	42					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765813	18765813	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:18765813G>A	ENST00000304081.4	-	4	790	c.690C>T	c.(688-690)taC>taT	p.Y230Y	NT5C1B_ENST00000359846.2_Silent_p.Y290Y|NT5C1B_ENST00000600945.1_Silent_p.Y290Y|NT5C1B-RDH14_ENST00000532967.1_Silent_p.Y290Y	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGTTCTTCTCGTAGAACGACC	0.692000													9	17					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658119	49658119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:49658119C>T	ENST00000252825.4	-	1	562	c.376G>A	c.(376-378)Gag>Aag	p.E126K	HRC_ENST00000595625.1_Missense_Mutation_p.E126K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	126	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCACCATGCTCTGCAAAGACC	0.602000													32	48					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568549	103568549	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:103568549G>A	ENST00000380069.3	+	2	565	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	163										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGGCCGAGAAGGCCTCGCGCA	0.652000													2	2					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812394	169812394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:169812394C>T	ENST00000274629.4	-	2	500	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.G20S	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	20					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ATGGTTACACCCAGGCAAAGG	0.562000													26	37					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112545836	112545836	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:112545836A>G	ENST00000341068.3	-	39	5546	c.4774T>C	c.(4774-4776)Ttc>Ctc	p.F1592L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1592					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGAGCTGGGAAGTGCGGATAA	0.428000													19	48					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1034917	1034917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:1034917C>T	ENST00000296849.5	+	7	702	c.473C>T	c.(472-474)tCg>tTg	p.S158L	NKD2_ENST00000274150.4_Missense_Mutation_p.S158L|NKD2_ENST00000537972.1_Missense_Mutation_p.S158L	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	158	Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GTGGATGCCTCGGTCAACCAC	0.627000													28	56					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35051048	35051048	+	Silent	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:35051048A>G	ENST00000310974.4	-	5	489	c.345T>C	c.(343-345)agT>agC	p.S115S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	115						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCGGTACCAACTGGCCAAAA	0.323000													3	52					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348633	10348633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:10348633G>A	ENST00000255381.2	-	36	5326	c.5216C>T	c.(5215-5217)tCc>tTc	p.S1739F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1739					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGATTTGGGAAATGTCTGT	0.443000													65	77					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856482	54856482	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:54856482G>A	ENST00000333896.5	+	13	2557	c.2172G>A	c.(2170-2172)aaG>aaA	p.K724K	SPTBN1_ENST00000356805.4_Silent_p.K737K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	737					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCATTCGGAAGAAGCGCCTGG	0.582000													27	38					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920116	155920116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:155920116C>T	ENST00000368316.1	-	25	3247	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R955H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R953H|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R954H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R926H			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	954					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGAGACAGACGGCTGCTACC	0.622000													62	87					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33454280	33454280	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:33454280A>C	ENST00000283629.3	-	4	911	c.382T>G	c.(382-384)Tac>Gac	p.Y128D	UBP1_ENST00000447368.2_Missense_Mutation_p.Y128D|UBP1_ENST00000283628.5_Missense_Mutation_p.Y128D	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	128					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGCTCTGTGTATTGTAGCCGT	0.443000													5	185					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881710	108881710	+	Nonsense_Mutation	SNP	G	G	A	rs146012391		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:108881710G>A	ENST00000329106.2	+	7	818	c.818G>A	c.(817-819)tGg>tAg	p.W273*		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	273						cytoplasm	alcohol sulfotransferase activity	p.W273*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCTGGAGACTGGAAGAACTAT	0.478000													29	55					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113174230	113174230	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:113174230G>A	ENST00000261965.3	-	15	2037	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	TUBGCP3_ENST00000375669.3_Silent_p.I617I	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	617					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCCTTCGCAGGATCTCAGGAC	0.592000													40	52					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139155	90139155	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:90139155C>T	ENST00000492446.1	+	0	78																											TGCTCTGTTTCCCAGGTAAGG	0.498000													64	153					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45014787	45014787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:45014787G>A	ENST00000258787.7	-	5	740	c.604C>T	c.(604-606)Cac>Tac	p.H202Y		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	202	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TAGAAGGCGTGGAAGTTTCTT	0.592000													128	355					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994394	53994394	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:53994394A>C	ENST00000396403.4	+	4	1036	c.908A>C	c.(907-909)gAa>gCa	p.E303A	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAATGTGAAGAATGTGACAAA	0.388000													41	58					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588529	72588529	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:72588529A>T	ENST00000392620.1	+	3	706	c.344A>T	c.(343-345)aAa>aTa	p.K115I	C17orf77_ENST00000328023.2_Missense_Mutation_p.K115I	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	115	Cys-rich.					extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CATTCTTTGAAAAGACTAAGG	0.428000													44	66					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325120	31325120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:31325120G>A	ENST00000269197.5	+	12	5308	c.5308G>A	c.(5308-5310)Gga>Aga	p.G1770R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCCAGATTGGGAGCCAAGCT	0.517000													16	22					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78820344	78820344	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:78820344C>T	ENST00000306801.3	+	11	1646	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RPTOR_ENST00000544334.2_Silent_p.N428N|RPTOR_ENST00000537330.1_Silent_p.N243N|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	428					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAACCGAAACCCACCCGAAC	0.617000													61	72					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32586368	32586368	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:32586368T>G	ENST00000345122.3	+	3	4055	c.3740T>G	c.(3739-3741)tTc>tGc	p.F1247C	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1247C|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1246C|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1246C	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1247					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACTAAGAACTTCAATCCACCA	0.333000													33	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434752	179434752	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:179434752G>A	ENST00000589042.1	-	326	76331	c.76107C>T	c.(76105-76107)ctC>ctT	p.L25369L	TTN_ENST00000359218.5_Silent_p.L16429L|TTN_ENST00000342992.6_Silent_p.L22801L|TTN_ENST00000342175.6_Silent_p.L16496L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L23728L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.L16304L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23728	Fibronectin type-III 84.						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)			GATTTTCTATGAGTCCAGTTA	0.438000													21	24					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114597	120114597	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:120114597G>A	ENST00000332843.2	+	4	344	c.303G>A	c.(301-303)ggG>ggA	p.G101G	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	101	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GTGACAAAGGGGAAAAAGGTT	0.333000													15	49					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748266	36748266	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:36748266C>T	ENST00000354618.5	+	3	326	c.102C>T	c.(100-102)agC>agT	p.S34S	THRAP3_ENST00000469141.2_Silent_p.S34S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	34	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCCCGAAGCCGATCTCTCT	0.453000			T	USP6	aneurysmal bone cysts								39	57					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899606	233899606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:233899606G>A	ENST00000233840.3	+	2	982	c.982G>A	c.(982-984)Gcc>Acc	p.A328T		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	328							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGTACTGCTGGCCAAGGGCAG	0.632000													59	73					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191588	149191588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:149191588G>A	ENST00000461958.2	-	2	227	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P11S|ZNF746_ENST00000340622.3_Missense_Mutation_p.P11S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	11					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.P11S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ATCGTCCACGGAGAAATCTTT	0.547000													53	73					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322097	114322097	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:114322097G>A	ENST00000335678.6	+	1	628	c.396G>A	c.(394-396)gcG>gcA	p.A132A		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	132	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GGATAGTGGCGAAGTTTAAGG	0.627000													3	13					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180056804	180056804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:180056804C>T	ENST00000367607.3	+	32	6795	c.6377C>T	c.(6376-6378)tCc>tTc	p.S2126F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2126						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAACGCTCTCCTCAGCTTCT	0.378000													4	6					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685088	100685088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100685088C>T	ENST00000306151.4	+	3	10455	c.10391C>T	c.(10390-10392)cCt>cTt	p.P3464L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3464	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAATTATGCCTCTCAGTACC	0.493000													200	742					0	0	1	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478467	106478467	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:106478467C>T	ENST00000390596.2	-	0	110																											TCCCATATCCCCATGTCTGCA	0.592000													6	21					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124103861	124103861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:124103861C>T	ENST00000360013.3	+	11	2061	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	KALRN_ENST00000460856.1_Missense_Mutation_p.S645F|KALRN_ENST00000240874.3_Missense_Mutation_p.S645F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	645					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTCTGTTTCCTTCCACACA	0.572000													31	57					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174701	104174701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:104174701C>T	ENST00000020673.5	-	4	1569	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	PSD_ENST00000406432.1_Missense_Mutation_p.G348D	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	348					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATCCTCATTGCCACTGCCGAG	0.652000													35	12					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42879809	42879809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42879809C>T	ENST00000334370.4	+	41	7854	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	MEGF8_ENST00000251268.6_Missense_Mutation_p.R2474C|MEGF8_ENST00000378073.4_Missense_Mutation_p.R68C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2474	Laminin EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGCCCCGGCCGCACTGTCCT	0.647000													14	6					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120767143	120767143	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:120767143G>A	ENST00000310396.5	+	10	1601		c.e10-1		CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000423795.1_Splice_Site	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTCTTTCAAAGGTACACGAGC	0.284000													11	72					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29784173	29784173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:29784173G>A	ENST00000269202.6	+	7	444	c.397G>A	c.(397-399)Gtt>Att	p.V133I	MEP1B_ENST00000581447.1_Missense_Mutation_p.V133I	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	133	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAATAGGCGGGTTGGGAAGCA	0.512000													3	20					0	0	1	0	0
RP11-123M6.2	0	broad.mit.edu	37	14	101318777	101318777	+	RNA	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:101318777G>A	ENST00000554041.1	-	0	143				MIR770_ENST00000390219.1_RNA																							CACATGAGCTGGGCCTCGTGG	0.587000													24	24					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45795768	45795768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:45795768C>T	ENST00000397928.1	+	6	1269	c.824C>T	c.(823-825)aCc>aTc	p.T275I	TRPM2_ENST00000397932.2_Missense_Mutation_p.T275I|TRPM2_ENST00000300482.5_Missense_Mutation_p.T275I|TRPM2_ENST00000300481.9_Missense_Mutation_p.T275I|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	275						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGAACCTGACCTGCCTAGAC	0.597000													33	51					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303157	151303157	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:151303157C>T	ENST00000370323.4	-	4	1252	c.936G>A	c.(934-936)ctG>ctA	p.L312L	MAGEA10_ENST00000244096.3_Silent_p.L312L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	312	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAATTTCAGGAGACTCA	0.502000													66	9					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629909	9629909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:9629909G>A	ENST00000382492.2	-	1	554	c.236C>T	c.(235-237)tCt>tTt	p.S79F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	79					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAATTCGCAGAACACATGAT	0.398000													10	15					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357560	13357560	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:13357560C>T	ENST00000276297.4	-	2	430	c.21G>A	c.(19-21)aaG>aaA	p.K7K	DLC1_ENST00000316609.5_Silent_p.K7K|DLC1_ENST00000511869.1_Silent_p.K7K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	7					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCCAGCTTCTCTTTCTGATAG	0.413000													35	57					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27394279	27394279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:27394279C>T	ENST00000358918.3	-	6	941	c.742G>A	c.(742-744)Gat>Aat	p.D248N	APP_ENST00000357903.3_Missense_Mutation_p.D248N|APP_ENST00000439274.2_Missense_Mutation_p.D192N|APP_ENST00000354192.3_Missense_Mutation_p.D192N|APP_ENST00000348990.5_Missense_Mutation_p.D248N|APP_ENST00000448388.2_Missense_Mutation_p.D213N|APP_ENST00000440126.3_Missense_Mutation_p.D243N|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.D248N|APP_ENST00000346798.3_Missense_Mutation_p.D248N	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	248	Asp/Glu-rich (acidic).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ccatcctcatcgtcctcgtca	0.507000													4	12					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183191251	183191251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:183191251G>A	ENST00000264144.4	+	6	733	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	LAMC2_ENST00000493293.1_Missense_Mutation_p.R223Q	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	223	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCTGTCCAACGAAATGGGTCT	0.453000													64	91					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74365182	74365182	+	Silent	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:74365182A>G	ENST00000377044.4	-	2	647	c.108T>C	c.(106-108)cgT>cgC	p.R36R	TMEM2_ENST00000377066.5_Silent_p.R36R	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	36						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAGGAGGGGGACGCAATGGGA	0.537000													3	130					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107148	168107148	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:168107148C>G	ENST00000409195.1	+	9	9335	c.9246C>G	c.(9244-9246)caC>caG	p.H3082Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.H3082Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2860Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2907					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						CAGTACAGCACCAAGTAGCAG	0.348000													11	19					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94692474	94692474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:94692474C>T	ENST00000258526.4	+	27	4390	c.4141C>T	c.(4141-4143)Cca>Tca	p.P1381S	PLXNC1_ENST00000545312.1_Missense_Mutation_p.P120S|PLXNC1_ENST00000547057.1_Missense_Mutation_p.P428S	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1381					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGCAGAGCTCCATTTGCTAT	0.373000													17	22					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096345	1096345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:1096345G>A	ENST00000441003.2	+	34	6397	c.6370G>A	c.(6370-6372)Gac>Aac	p.D2124N	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.D262N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4486						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCTGGGGCGACCCGCACTA	0.662000													19	36					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30806301	30806301	+	Silent	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:30806301T>C	ENST00000261712.3	+	10	1208	c.945T>C	c.(943-945)gaT>gaC	p.D315D	PSMD11_ENST00000457654.2_Silent_p.D315D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	315	PCI.				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|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGCTCCGGGATGACCCAATCA	0.473000													75	117					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287415	16287415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:16287415C>T	ENST00000343518.6	-	1	522	c.471G>A	c.(469-471)tgG>tgA	p.W157*		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	157										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTAGTCTCCCCAAGGGCCCA	0.592000													67	337					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263753	34263753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:34263753G>A	ENST00000262622.3	+	4	1818	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	CHST8_ENST00000438847.2_Missense_Mutation_p.D354N|CHST8_ENST00000434302.1_Missense_Mutation_p.D354N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	354					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CATGGAGGACGATGCCAACTT	0.632000													23	34					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650812	93650812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:93650812G>A	ENST00000375754.4	+	13	1886	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	SYK_ENST00000375746.1_Missense_Mutation_p.E580K|SYK_ENST00000375751.4_Missense_Mutation_p.E557K|SYK_ENST00000375747.1_Missense_Mutation_p.E557K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	580	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GAAAGGAAGTGAAGTCACCGC	0.438000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								16	15					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958628	166958628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:166958628G>A	ENST00000392766.2	-	21	2696	c.2356C>T	c.(2356-2358)Ctc>Ttc	p.L786F	ZBBX_ENST00000455345.2_Missense_Mutation_p.L825F|ZBBX_ENST00000392764.1_Missense_Mutation_p.L757F|ZBBX_ENST00000307529.5_Missense_Mutation_p.L825F|ZBBX_ENST00000392767.2_Missense_Mutation_p.L786F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	786						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCTTGTTGAGAAAATCTTCC	0.378000													27	47					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475982	108475982	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:108475982C>T	ENST00000295755.6	-	1	249	c.51G>A	c.(49-51)ctG>ctA	p.L17L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	17					cell proliferation	extracellular region	hormone activity	p.L17L(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCGGGTTGATCAGCTGGAGAA	0.522000													21	18					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12130073	12130073	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:12130073G>C	ENST00000379388.2	+	5	6489	c.6157G>C	c.(6157-6159)Gaa>Caa	p.E2053Q	HIVEP1_ENST00000541134.1_Intron	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2053					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAGATAAAGAAAATTCCTT	0.303000													3	74					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400628	85400628	+	Missense_Mutation	SNP	C	C	T	rs147903664		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:85400628C>T	ENST00000258888.5	+	6	3432	c.3265C>T	c.(3265-3267)Ccg>Tcg	p.P1089S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1089					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGTAGCACCCCGACTTCTCA	0.637000													18	35					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123912695	123912695	+	Silent	SNP	C	C	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:123912695C>A	ENST00000373855.1	+	25	4157	c.3897C>A	c.(3895-3897)ccC>ccA	p.P1299P	CNTRL_ENST00000373847.1_Silent_p.P747P|CNTRL_ENST00000238341.5_Silent_p.P1299P|CNTRL_ENST00000373850.1_Silent_p.P747P			Q7Z7A1	CNTRL_HUMAN	centriolin	1299	Pro-rich.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTCCACCCCCCAACTTCTCCA	0.547000													28	38					2.47511e-08	2.54053e-08	1	1	0
EFHB	151651	broad.mit.edu	37	3	19975140	19975140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:19975140C>T	ENST00000295824.9	-	1	532	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	124					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGTATTATCCGTTCATGGGT	0.507000													45	45					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506200	131506200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:131506200C>T	ENST00000306010.7	+	3	292	c.260C>T	c.(259-261)cCg>cTg	p.P87L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	87										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CTCGGAGGTCCGGAGCCCCTG	0.612000								Direct reversal of damage					22	7					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463705	104463705	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:104463705A>G	ENST00000413579.1	-	5	1282	c.1171T>C	c.(1171-1173)Tca>Cca	p.S391P	TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	391						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCCTCCGTGAAAAATTCACA	0.493000													141	30					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401708	89401708	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:89401708C>T	ENST00000439576.2	+	12	6266	c.5892C>T	c.(5890-5892)ctC>ctT	p.L1964L	ACAN_ENST00000352105.7_Silent_p.L1964L|ACAN_ENST00000561243.1_Silent_p.L1964L|ACAN_ENST00000559004.1_Silent_p.L1964L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1964					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTTTAGAACTCAGTGGTGCTC	0.547000													28	23					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12452347	12452347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:12452347G>A	ENST00000409402.4	-	16	2186	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	SPIRE1_ENST00000410092.3_Missense_Mutation_p.S626L|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S506L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.S429L|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	640						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGGTCCCAATGAAAAGATAGG	0.483000													19	38					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57859426	57859426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:57859426C>T	ENST00000228682.2	+	6	662	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	GLI1_ENST00000543426.1_Missense_Mutation_p.R63W|GLI1_ENST00000546141.1_Missense_Mutation_p.R150W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	191					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGCAAGTGCCGGGAGGAACC	0.552000													23	22					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2338753	2338753	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:2338753C>T	ENST00000452401.2	+	0	452				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCAGGTCCCCCCGGGGG	0.642000													18	19					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67050674	67050674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:67050674C>T	ENST00000308595.5	+	15	1593	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	435	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGATGTCAACCGGAGATTGGG	0.637000													54	105					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029557	14029557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:14029557C>T	ENST00000311895.7	+	8	1777	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	590					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTGTTCGGCAGCTTGAAAT	0.473000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	52					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28636041	28636041	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:28636041A>C	ENST00000380982.4	-	3	412	c.331T>G	c.(331-333)Tcc>Gcc	p.S111A	FLT3_ENST00000241453.7_Missense_Mutation_p.S111A|FLT3_ENST00000537084.1_Missense_Mutation_p.S111A			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	111					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTCAGGGAGCTGTGCTTA	0.453000			"""Mis, O"""		"""AML, ALL"""								28	48					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:77766907G>A	ENST00000521891.2	+	10	8198	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2539						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)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)			7	46					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36439064	36439064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:36439064C>T	ENST00000373191.4	+	5	959	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	AGO3_ENST00000324350.5_Missense_Mutation_p.H204Y|AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.H204Y	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GTTTGGATTCCATCAGTCTGT	0.463000													123	181					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799168	5799168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5799168C>T	ENST00000317093.2	-	1	729	c.697G>A	c.(697-699)Gca>Aca	p.A233T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTGATCGCTGCCTTGAGGATC	0.443000													22	39					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403151	91403151	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:91403151G>A	ENST00000370440.1	-	4	3796	c.3579C>T	c.(3577-3579)atC>atT	p.I1193I	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.I1193I			Q9H582	ZN644_HUMAN	zinc finger protein 644	1193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTGATTATGGATCTTTTGAG	0.373000													24	45					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63727144	63727144	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:63727144A>T	ENST00000421025.1	+	5	1402	c.1133A>T	c.(1132-1134)gAa>gTa	p.E378V	ZNF679_ENST00000255746.4_Missense_Mutation_p.E378V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACTGGAGAGGAACCCTACAAA	0.388000													18	25					0	0	1	0	0
MIR206	406989	broad.mit.edu	37	6	52009186	52009186	+	RNA	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:52009186G>A	ENST00000384872.1	+	0	40					NR_029713.1																						TCCCCATATGGATTACTTTGC	0.532000													29	11					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651278	207651278	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:207651278T>C	ENST00000367057.3	+	16	3140	c.2951T>C	c.(2950-2952)cTg>cCg	p.L984P	CR2_ENST00000367058.3_Missense_Mutation_p.L925P|CR2_ENST00000458541.2_Missense_Mutation_p.L898P|CR2_ENST00000367059.3_Missense_Mutation_p.L863P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	925					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAGGGCTGGAACCAAGG	0.438000													26	27					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8469812	8469812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:8469812G>A	ENST00000389737.4	+	9	1666	c.1666G>A	c.(1666-1668)Ggt>Agt	p.G556S	TRMT44_ENST00000513449.2_Missense_Mutation_p.G315S	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		TCACTGTGACGGTCAGCAAGC	0.642000													9	13					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220608	146220608	+	RNA	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:146220608G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TGAGAGCAAGGAAACAGGGCA	0.408000													47	158					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825015	52825015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:52825015C>T	ENST00000595962.1	+	5	578	c.512C>T	c.(511-513)tCt>tTt	p.S171F	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.S94F|ZNF480_ENST00000334564.7_Missense_Mutation_p.S128F|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAAGAAATGTCTTCCAGTGTC	0.353000													33	47					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204653	128204653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:128204653C>T	ENST00000341105.2	-	3	1119	c.788G>A	c.(787-789)gGa>gAa	p.G263E	GATA2_ENST00000487848.1_Missense_Mutation_p.G263E|GATA2_ENST00000430265.2_Missense_Mutation_p.G263E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	263					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTGGAAGAGTCCGCTGCTGTA	0.657000			Mis		AML(CML blast transformation)								15	10					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148578029	148578029	+	Missense_Mutation	SNP	G	G	A	rs143474305		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:148578029G>A	ENST00000340855.6	-	6	936	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.P243S|IDS_ENST00000541269.1_Missense_Mutation_p.P32S|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Missense_Mutation_p.P243S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	243						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTCTCCAAGGGATACAACTTC	0.517000													47	7					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912491	54912491	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:54912491C>T	ENST00000293373.6	+	14	1474	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	NCKAP1L_ENST00000545638.2_Silent_p.I415I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	465					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCGTCAGTATCCTCTCCTCTC	0.468000													28	54					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24734548	24734548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:24734548C>T	ENST00000379068.3	+	7	638	c.595C>T	c.(595-597)Cct>Tct	p.P199S	POLA1_ENST00000379059.3_Missense_Mutation_p.P193S			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	193					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTCACCGAATCCTTTCTCTGT	0.388000													19	3					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85936730	85936730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:85936730C>T	ENST00000268638.5	+	2	531	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	IRF8_ENST00000563180.1_Missense_Mutation_p.R37W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	37					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R37W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGCATGTTCCGGATCCCTTG	0.522000													39	41					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150553699	150553699	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:150553699C>T	ENST00000493429.1	+	4	725	c.141C>T	c.(139-141)ttC>ttT	p.F47F	AOC1_ENST00000467291.1_Silent_p.F47F|AOC1_ENST00000416793.2_Silent_p.F47F|AOC1_ENST00000360937.4_Silent_p.F47F					amine oxidase, copper containing 1																		TGCACAGCTTCCTCTGGTCCA	0.597000													33	123					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052281	44052281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:44052281G>A	ENST00000306006.6	-	2	1899	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	ZNF239_ENST00000374446.2_Missense_Mutation_p.S416F|ZNF239_ENST00000535642.1_Missense_Mutation_p.S416F|ZNF239_ENST00000426961.1_Missense_Mutation_p.S416F	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGGAGTTTGGAACTCTGGCT	0.532000													20	10					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537331	5537331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5537331C>T	ENST00000380184.1	-	1	604	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	114										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGGCAGGTCCCGGAAGGAATG	0.542000													15	85					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666002	157666002	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:157666002G>T	ENST00000368184.3	-	7	1251	c.960C>A	c.(958-960)ttC>ttA	p.F320L	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.F320L|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	320	Ig-like C2-type 4.					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)					TGTGCCAGGAGAATGTGACAG	0.517000													50	70					3.07002e-29	3.18625e-29	1	1	0
TTN	7273	broad.mit.edu	37	2	179449181	179449181	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:179449181C>T	ENST00000589042.1	-	311	65321	c.65097G>A	c.(65095-65097)aaG>aaA	p.K21699K	TTN_ENST00000359218.5_Silent_p.K12759K|TTN_ENST00000342992.6_Silent_p.K19131K|TTN_ENST00000342175.6_Silent_p.K12826K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K20058K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.K12634K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20058							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)			TGTTTCTTTCCTTGCGTTCAA	0.443000													17	32					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812393	169812393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:169812393C>T	ENST00000274629.4	-	2	501	c.59G>A	c.(58-60)gGt>gAt	p.G20D	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.G20D	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	20					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CATGGTTACACCCAGGCAAAG	0.562000													27	37					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722390	129722390	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:129722390A>C	ENST00000281441.3	+	2	101	c.13A>C	c.(13-15)Aag>Cag	p.K5Q	TMEM45B_ENST00000524567.1_Missense_Mutation_p.K5Q	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	5						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GGCAAATTTCAAGGGCCACGC	0.473000													22	34					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899941	4899941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:4899941G>A	ENST00000404991.1	-	1	1684	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	500					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TGAAGCACATGATGAGGCAGC	0.413000													14	51					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853524	176853524	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:176853524G>A	ENST00000367654.2	-	19	3214	c.3201C>T	c.(3199-3201)ctC>ctT	p.L1067L	ASTN1_ENST00000361833.2_Silent_p.L1059L|ASTN1_ENST00000367657.3_Silent_p.L1059L|ASTN1_ENST00000424564.2_Silent_p.L1059L			O14525	ASTN1_HUMAN	astrotactin 1	1067	Fibronectin type-III 1.				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						TCTCTTGACGGAGGAGGTAAT	0.517000													60	60					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70988325	70988325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:70988325G>A	ENST00000334414.6	-	6	1482	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	PTPRB_ENST00000550857.1_Missense_Mutation_p.P262S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P262S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P480S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.P479S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P262S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P262S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	262	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGTAGCCAGGGGTCAGCCCG	0.507000													36	50					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30693778	30693778	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:30693778C>T	ENST00000399921.1	+	2	420	c.177C>T	c.(175-177)ttC>ttT	p.F59F	BACH1_ENST00000286800.3_Silent_p.F59F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	59	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GCAGTTACTTCCACTCAAGAA	0.502000													39	68					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25024078	25024078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:25024078C>T	ENST00000400382.1	+	14	2122	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	GGT1_ENST00000248923.4_Missense_Mutation_p.T456M|GGT1_ENST00000403838.1_Missense_Mutation_p.T112M|GGT1_ENST00000400383.1_Missense_Mutation_p.T456M|GGT1_ENST00000404223.1_Missense_Mutation_p.T112M|GGT1_ENST00000401885.1_Missense_Mutation_p.T112M|GGT1_ENST00000400380.1_Missense_Mutation_p.T456M|GGT1_ENST00000406383.2_Missense_Mutation_p.T456M|GGT1_ENST00000404920.1_Missense_Mutation_p.T112M|GGT1_ENST00000404532.1_Missense_Mutation_p.T112M|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	456					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATGTGCCCGACGATCATGGTG	0.662000													4	154					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492135	85492135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:85492135G>A	ENST00000393217.2	+	12	2951	c.2890G>A	c.(2890-2892)Ggt>Agt	p.G964S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	964										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTTCTAGGTGGTTTAGAATC	0.308000													10	13					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824095	54824095	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:54824095A>C	ENST00000243911.2	+	1	308	c.196A>C	c.(196-198)Aac>Cac	p.N66H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	103					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTGGTCAGGAACGGCAACCT	0.567000													30	56					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47584871	47584871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:47584871G>A	ENST00000253048.5	-	11	1376	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	447							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGCTTACACGGGAAATCACGT	0.517000													71	12					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627425	37627425	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:37627425G>A	ENST00000249071.6	-	5	415	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RAC2_ENST00000406508.1_Silent_p.F54F|RAC2_ENST00000405484.1_Silent_p.F91F	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	98					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCACTTCTGGGAACCACTGGG	0.627000													40	29					0	0	1	0	0
RPS8	6202	broad.mit.edu	37	1	45243706	45243706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:45243706G>A	ENST00000396651.3	+	5	582	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	RPS8_ENST00000372209.3_Missense_Mutation_p.R121Q|RPS8_ENST00000485390.1_3'UTR			P62241	RS8_HUMAN	ribosomal protein S8	141					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					AACAAAAAACGATCTAAAAAA	0.433000													6	15					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271303	109271303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:109271303G>A	ENST00000370017.3	+	8	1696	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	FNDC7_ENST00000271311.2_Missense_Mutation_p.M474I	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	474	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CATTCTCCATGATTAATGTGC	0.423000													31	58					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75698579	75698579	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:75698579A>C	ENST00000393284.3	-	8	699	c.98T>G	c.(97-99)aTg>aGg	p.M33R	CAPS2_ENST00000409799.1_Missense_Mutation_p.M215R|CAPS2_ENST00000409445.3_Missense_Mutation_p.M265R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_5'UTR			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	265							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGAGGTGTCATCTTTGAATC	0.318000													21	34					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39967006	39967006	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:39967006C>T	ENST00000599117.1	+	31	3598	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	SUPT5H_ENST00000598725.1_Silent_p.N1077N|SUPT5H_ENST00000359191.6_Silent_p.N1073N|SUPT5H_ENST00000432763.2_Silent_p.N1077N|SUPT5H_ENST00000402194.2_Silent_p.N1073N			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1077					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATCCTCAACCTCCGCTTCC	0.597000													56	12					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898227	49898227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:49898227C>T	ENST00000477224.1	-	8	1175	c.697G>A	c.(697-699)Gat>Aat	p.D233N	CAMKV_ENST00000488336.1_Missense_Mutation_p.D233N|CAMKV_ENST00000463537.1_Missense_Mutation_p.D233N|CAMKV_ENST00000466940.1_Missense_Mutation_p.D190N|CAMKV_ENST00000467248.1_Missense_Mutation_p.D158N|CAMKV_ENST00000296471.7_Missense_Mutation_p.D205N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	233	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGATTCTTATCATGGTTCTCA	0.498000													84	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434590	179434590	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:179434590G>A	ENST00000589042.1	-	326	76493	c.76269C>T	c.(76267-76269)ttC>ttT	p.F25423F	TTN_ENST00000359218.5_Silent_p.F16483F|TTN_ENST00000342992.6_Silent_p.F22855F|TTN_ENST00000342175.6_Silent_p.F16550F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F23782F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.F16358F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23782	Fibronectin type-III 84.						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)			TCCAAGAAAGGAATACTGAAG	0.413000													25	25					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90035698	90035698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:90035698C>T	ENST00000317005.2	+	1	1731	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	525					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TAACAAAAATCATTAATAAGG	0.343000													22	27					0	0	1	0	0
FAM92B	339145	broad.mit.edu	37	16	85135862	85135862	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:85135862G>A	ENST00000539556.1	-	7	764	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	203										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GGGTCTGGAAGGCGCTAGAAT	0.463000													34	58					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934409	68934409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:68934409C>T	ENST00000356291.2	-	7	741	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	228	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGCCTGACCCTATGAGCTGG	0.527000													11	53					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178426	65178426	+	Silent	SNP	C	C	T	rs146176907		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:65178426C>T	ENST00000310045.7	-	2	4923	c.3450G>A	c.(3448-3450)agG>agA	p.R1150R	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1140						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGGCAAAAATCCTTTCAGTAG	0.393000													24	28					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689598	10689598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:10689598C>T	ENST00000356607.4	+	9	768	c.688C>T	c.(688-690)Cct>Tct	p.P230S	PEX14_ENST00000538836.1_Missense_Mutation_p.P166S	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	230					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCAGTTCCCTCCATCCCC	0.657000													57	102					0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131357380	131357380	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:131357380G>T	ENST00000543796.1	+	3	294		c.e3-1		RAN_ENST00000541630.1_Splice_Site|RAN_ENST00000392369.2_Splice_Site|RAN_ENST00000392367.3_Splice_Site|RAN_ENST00000254675.3_Splice_Site			P62826	RAN_HUMAN	RAN, member RAS oncogene family						androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TTTTTCAACAGCTTGTATTGG	0.408000													51	87					4.88482e-21	5.04729e-21	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151155258	151155258	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:151155258T>G	ENST00000282466.3	-	6	7090	c.7091A>C	c.(7090-7092)aAc>aCc	p.N2364T	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2364	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGGTGGGTTACCATCAAC	0.393000													72	84					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669680	119669680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:119669680C>T	ENST00000368468.3	-	2	992	c.551G>A	c.(550-552)aGc>aAc	p.S184N	MAN1A1_ENST00000368466.2_Missense_Mutation_p.S184N	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	184					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGCTCCCGGCTCTCCACCCC	0.652000													21	20					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67050673	67050673	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:67050673C>T	ENST00000308595.5	+	15	1592	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	434	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGGATGTCAACCGGAGATTGG	0.637000													55	107					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568831	5568831	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:5568831G>A	ENST00000331789.5	-	3	515	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	108					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTTCAGGGGGGCCTCGGTCA	0.642000													57	43					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	975870	975870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:975870G>A	ENST00000544583.2	-	8	1339	c.740C>T	c.(739-741)aCa>aTa	p.T247I	ABR_ENST00000536794.2_Missense_Mutation_p.T75I|ABR_ENST00000291107.2_Missense_Mutation_p.T256I|ABR_ENST00000574437.1_Missense_Mutation_p.T247I|ABR_ENST00000302538.5_Missense_Mutation_p.T293I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	293	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTTGGGCGTTGTCACTGCAGT	0.657000													11	15					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733756	28733756	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:28733756C>T	ENST00000550043.1	+	0	161																											TGCCCTCGGGCGCCATGTCGC	0.672000													8	5					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661599	2661599	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:2661599C>T	ENST00000324666.5	+	8	1041	c.690C>T	c.(688-690)ccC>ccT	p.P230P	FAM193A_ENST00000545951.1_Silent_p.P230P|FAM193A_ENST00000382839.3_Silent_p.P230P|FAM193A_ENST00000502458.1_Silent_p.P254P|FAM193A_ENST00000505311.1_Silent_p.P230P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	230										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGGACCCCCCCGTCACTGATG	0.527000													80	92					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975691	152975691	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:152975691C>T	ENST00000331860.3	+	3	345	c.195C>T	c.(193-195)ggC>ggT	p.G65G	SPRR3_ENST00000295367.4_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	65	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).	keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.557000													4	41					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55255251	55255251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:55255251G>A	ENST00000342376.3	+	4	410	c.379G>A	c.(379-381)Gag>Aag	p.E127K	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.E127K	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGGTCTATATGAGAAACCTTC	0.557000													118	10					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906650	38906650	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:38906650A>C	ENST00000312150.4	-	6	1217	c.1157T>G	c.(1156-1158)cTt>cGt	p.L386R		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	386	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCCTCCTATAAGGAGACAGTA	0.473000													99	112					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			39	66					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71060647	71060647	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:71060647G>A	ENST00000452400.2	-	12	2647	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	822					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCGTGTCTGGGAAAAGCTGTG	0.493000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	87	67					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75587088	75587088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:75587088G>A	ENST00000502798.2	+	7	1622	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	SV2C_ENST00000322285.7_Missense_Mutation_p.E394K|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	394					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGAGCTGATTGAAATTGAGAG	0.423000													34	41					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13275623	13275623	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:13275623C>T	ENST00000378681.3	-	3	207	c.135G>A	c.(133-135)caG>caA	p.Q45Q	UCMA_ENST00000463405.2_Silent_p.Q23Q	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	45						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAAAATCTTCTGTTTTGCAT	0.597000													42	17					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61915896	61915896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:61915896G>A	ENST00000332981.5	+	5	1013	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	PRKCH_ENST00000555082.1_Missense_Mutation_p.V49I	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	210					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CACCTGTGTCGTCCATAAACG	0.423000													4	89					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724228	34724228	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:34724228T>C	ENST00000360581.1	+	2	340	c.212T>C	c.(211-213)cTt>cCt	p.L71P	NPSR1_ENST00000381553.3_Missense_Mutation_p.L71P|NPSR1_ENST00000465305.1_Missense_Mutation_p.L71P|NPSR1_ENST00000381539.3_Missense_Mutation_p.L71P|NPSR1_ENST00000531252.1_Missense_Mutation_p.L71P|NPSR1_ENST00000359791.1_Missense_Mutation_p.L71P|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.L71P	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	71						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCGTTGTGCTTTTTTCCACA	0.423000													52	92					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44867637	44867637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:44867637C>T	ENST00000326047.4	+	21	2805	c.2656C>T	c.(2656-2658)Caa>Taa	p.Q886*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.Q521*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	886					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAGAAACCTCCAAAACTTCAA	0.373000													42	59					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201369528	201369528	+	Silent	SNP	G	G	A	rs144080666	byFrequency	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:201369528G>A	ENST00000359878.3	-	3	825	c.315C>T	c.(313-315)gaC>gaT	p.D105D	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Silent_p.D105D	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	105						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGCCAAATGGTCAGACAGGC	0.373000													31	48					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68331883	68331883	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:68331883C>T	ENST00000393799.2	+	9	1225	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	PPP6R3_ENST00000524904.1_Silent_p.L320L|PPP6R3_ENST00000524845.1_Silent_p.L320L|PPP6R3_ENST00000265637.4_Silent_p.L320L|PPP6R3_ENST00000265636.5_Silent_p.L320L|PPP6R3_ENST00000393800.2_Silent_p.L320L|PPP6R3_ENST00000393801.3_Silent_p.L320L|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Silent_p.L320L|PPP6R3_ENST00000527403.2_Silent_p.L320L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	320					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCATGAACTCCTGCTGGAGCC	0.483000													67	86					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35051041	35051041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:35051041G>A	ENST00000310974.4	-	5	496	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	118						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTATAAATCCGGTACCAACTG	0.338000													3	62					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:19553567G>A	ENST00000409832.3	+	1	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000													63	872					0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42384973	42384973	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42384973T>A	ENST00000221972.3	+	5	792	c.607T>A	c.(607-609)Tcc>Acc	p.S203T	CD79A_ENST00000444740.2_Missense_Mutation_p.S165T	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	203	ITAM.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAGGACATCTCCCGGGGCCT	0.632000			"""O, S"""		DLBCL								14	17					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007138	94007138	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:94007138C>T	ENST00000553484.1	+	13	1639	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	UNC79_ENST00000393151.2_Silent_p.H495H|UNC79_ENST00000555664.1_Silent_p.H495H|UNC79_ENST00000256339.4_Silent_p.H318H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	495						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGATAAACACGATCAGAGGC	0.433000													36	103					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66458602	66458602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:66458602C>T	ENST00000404260.3	+	28	4270	c.3962C>T	c.(3961-3963)cCt>cTt	p.P1321L	MAST4_ENST00000405643.1_Missense_Mutation_p.P1139L|MAST4_ENST00000403625.2_Missense_Mutation_p.P1318L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1129L|MAST4_ENST00000261569.7_Missense_Mutation_p.P1124L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1321	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGCTCCACCCCTGACTTCCCA	0.557000													19	15					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513269	78513269	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:78513269A>T	ENST00000397909.2	+	15	3466	c.3293A>T	c.(3292-3294)aAa>aTa	p.K1098I	NAV3_ENST00000228327.6_Missense_Mutation_p.K1098I|NAV3_ENST00000266692.7_Missense_Mutation_p.K1098I|NAV3_ENST00000536525.2_Missense_Mutation_p.K1098I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1098	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAATTCCAAAATCTGCTGCC	0.463000										HNSCC(70;0.22)			39	50					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898596	37898596	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:37898596G>A	ENST00000309156.4	+	2	299	c.42G>A	c.(40-42)ccG>ccA	p.P14P	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Silent_p.P14P|GRB7_ENST00000394209.2_Silent_p.P14P|GRB7_ENST00000394211.3_Silent_p.P14P|GRB7_ENST00000309185.3_Silent_p.P14P|GRB7_ENST00000445327.2_Silent_p.P37P	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	14					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGCTCTCCGGAAGACCTTT	0.617000													99	143					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488793	20488793	+	RNA	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:20488793C>T	ENST00000555186.1	+	0	276					NR_038836.1																						AGACCTCTCTCATGAGAACTT	0.413000													23	148					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36492156	36492156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:36492156C>A	ENST00000229812.7	-	4	553	c.268G>T	c.(268-270)Gag>Tag	p.E90*		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	90	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAAGGACTCAAAATCTTCC	0.358000													54	17					2.01871e-26	2.09049e-26	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181727126	181727126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:181727126G>A	ENST00000526775.1	+	30	4481	c.4316G>A	c.(4315-4317)cGc>cAc	p.R1439H	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1065H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1390H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1439H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1458H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1458H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1409H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1458					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTCTCACCCGCTACATGCCG	0.512000													12	165					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344433	56344433	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:56344433G>A	ENST00000526812.2	-	1	830	c.765C>T	c.(763-765)ctC>ctT	p.L255L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACATGCAGAAGAGGGTTCCAT	0.448000													52	77					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7420476	7420476	+	Silent	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:7420476C>T	ENST00000399429.3	-	29	2363	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	741	Collagen-like 6.		R -> Q (in dbSNP:rs17167102).		cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCACATCGCCCCGTTCTCCGT	0.398000													38	133					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428903	10428903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:10428903C>T	ENST00000245503.5	-	32	4786	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1468K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1468					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATGCGTTTCCTCACATTTC	0.478000													15	28					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110104105	110104105	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:110104105T>C	ENST00000343115.4	-	13	1763	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	RDX_ENST00000544551.1_Missense_Mutation_p.T346A|RDX_ENST00000528498.1_Missense_Mutation_p.T482A|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.T482A|RDX_ENST00000528900.1_Missense_Mutation_p.T135A	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	482	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCGTTTTCTGTTGGAGGAATG	0.458000													122	126					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322700	43322700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:43322700G>A	ENST00000331495.3	+	22	3145	c.2809G>A	c.(2809-2811)Gat>Aat	p.D937N	FMNL1_ENST00000587489.1_Missense_Mutation_p.D515N|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.D937N	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	937	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGTGCGGCAGGATGACTGCAT	0.642000													53	12					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15172087	15172087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:15172087G>A	ENST00000355694.2	-	20	2015	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	TTC39B_ENST00000380850.4_Missense_Mutation_p.S647F|TTC39B_ENST00000297615.5_Missense_Mutation_p.S591F|TTC39B_ENST00000512701.1_Missense_Mutation_p.S660F|TTC39B_ENST00000507285.1_Missense_Mutation_p.S495F|TTC39B_ENST00000507993.1_Missense_Mutation_p.S495F	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	594							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGACTCCAGGGAGTAATCTTT	0.408000													23	41					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44228528	44228528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:44228528C>T	ENST00000403799.3	-	1	494	c.25G>A	c.(25-27)Gag>Aag	p.E9K	GCK_ENST00000437084.1_Missense_Mutation_p.E9K|GCK_ENST00000476008.1_Intron	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	9					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTGGCGGCCTCCATCCTGGCT	0.567000													25	55					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834107	61834107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:61834107G>A	ENST00000280772.1	-	37	6723	c.6532C>T	c.(6532-6534)Ccc>Tcc	p.P2178S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2178					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGCTGAGGGATCATAGCTC	0.473000													35	13					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404752	20404752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:20404752G>A	ENST00000285600.4	+	1	986	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAACTCCTGGAAAAACTAGG	0.438000													8	85					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708227	94708227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:94708227C>T	ENST00000304338.3	+	10	1233	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	360						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AACCAGATTCCACCCCAAATC	0.333000													26	41					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123993685	123993685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:123993685C>T	ENST00000456829.2	+	8	1030	c.779C>T	c.(778-780)cCa>cTa	p.P260L	VWA5A_ENST00000361352.5_Missense_Mutation_p.P260L|VWA5A_ENST00000449321.1_Missense_Mutation_p.P260L|VWA5A_ENST00000392744.4_Missense_Mutation_p.P276L|VWA5A_ENST00000392748.1_Missense_Mutation_p.P260L|VWA5A_ENST00000360334.4_Missense_Mutation_p.P260L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	260										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGGGAGATCCATCTGCAATG	0.408000													21	37					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130137800	130137800	+	Silent	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:130137800G>A	ENST00000223215.4	+	4	506	c.285G>A	c.(283-285)agG>agA	p.R95R	MEST_ENST00000341441.4_Silent_p.R86R|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000416162.2_Silent_p.R86R|MEST_ENST00000393187.1_Silent_p.R86R|MEST_ENST00000378576.4_Silent_p.R86R|MEST_ENST00000437945.1_Silent_p.R95R	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	95					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGACCTTGAGGTTTCATCGGG	0.522000													89	322					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999184	30999184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:30999184C>T	ENST00000297679.5	+	7	883	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	264					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGATGGATCACCCTACAGGAG	0.637000													73	144					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53025816	53025816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:53025816G>A	ENST00000276480.7	-	26	3769	c.3086C>T	c.(3085-3087)cCg>cTg	p.P1029L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1029						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTGCATTCCGGGGAATAGTC	0.448000													98	75					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:115998159G>A	ENST00000264363.2	-	2	712	c.34C>T	c.(34-36)Cga>Tga	p.R12*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	12			R -> Q (in dbSNP:rs35181627).			Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCAATGTTCGAAAACTTCTC	0.343000													5	12					0	0	1	0	0
LOC102724571	102724571	broad.mit.edu	37	1	9247033	9247034	+	RNA	INS	-	-	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:9247033_9247034insG	ENST00000412639.2	+	0	288				RP3-510D11.1_ENST00000437157.1_RNA																							GGGGGCGGGGCAGGGGGTGATG	0.584													3	5	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	226	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	50779986	50779987	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:50779986_50779987insC	ENST00000404971.1	-	10	2956_2957	c.1617_1618insG	c.(1615-1620)aaaaacfs	p.N540fs	NRXN1_ENST00000402717.3_Frame_Shift_Ins_p.N492fs|NRXN1_ENST00000405472.3_Frame_Shift_Ins_p.N492fs|NRXN1_ENST00000406316.2_Frame_Shift_Ins_p.N500fs|NRXN1_ENST00000401669.2_Frame_Shift_Ins_p.N500fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Ins_p.N500fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	500	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCCAGTTTTCTTTGCATTCC	0.426													28	43	---	---	---	---					
KCTD8	386617	broad.mit.edu	37	4	44449940	44449942	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:44449940_44449942delCGC	ENST00000360029.3	-	1	882_884	c.599_601delGCG	c.(598-603)gcg>g	p.GA200del		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	200	Poly-Gly.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTGTCCTGCGcgccgccgccgcc	0.759										HNSCC(17;0.042)			2	4	---	---	---	---					
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:102964992delT	ENST00000379263.3	-	6	840	c.590delA	c.(589-591)atfs	p.N197fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239													7	221	---	---	---	---					
GNAQ	2776	broad.mit.edu	37	9	80336308	80336321	+	Frame_Shift_Del	DEL	GATATTCTCGGTGT	GATATTCTCGGTGT	-	rs1059527		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:80336308_80336321delGATATTCTCGGTGT	ENST00000286548.4	-	7	1220_1233	c.998_1011delACACCGAGAATATC	c.(997-1011)gfs	p.DTENI333fs	GNAQ_ENST00000397476.3_Frame_Shift_Del_p.DTENI131fs	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	333					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.T334T(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AGACAAAGCGGATATTCTCGGTGTCTGTGGCGCA	0.519			Mis		uveal melanoma								16	51	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409539	22409539	+	RNA	DEL	C	C	-	rs2178778		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:22409539delC	ENST00000390441.2	+	0	102																											ctctctctctctTTTTTTTTT	0.428													2	4	---	---	---	---					
MEF2A	4205	broad.mit.edu	37	15	100252710	100252712	+	In_Frame_Del	DEL	CAG	CAG	-	rs72276751		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:100252710_100252712delCAG	ENST00000354410.5	+	11	1863_1865	c.1234_1236delCAG	c.(1234-1236)del	p.Q422del	MEF2A_ENST00000338042.6_In_Frame_Del_p.Q429del|MEF2A_ENST00000557942.1_In_Frame_Del_p.Q428del|MEF2A_ENST00000453228.2_In_Frame_Del_p.Q420del|MEF2A_ENST00000558812.1_In_Frame_Del_p.Q360del|MEF2A_ENST00000449277.2_In_Frame_Del_p.Q352del|MEF2A_ENST00000557785.1_In_Frame_Del_p.Q420del	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	430	Gln/Pro-rich.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATCGGGCTTCcagcagcagcagc	0.606													3	5	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29118702	29118704	+	RNA	DEL	AGC	AGC	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:29118702_29118704delAGC	ENST00000564580.1	+	0	1448				CTB-134H23.3_ENST00000562618.1_RNA																							GCCAGGTCCAagcagcagcagca	0.660													4	7	---	---	---	---					
AQP4-AS1	147429	broad.mit.edu	37	18	24489770	24489772	+	RNA	DEL	GAG	GAG	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:24489770_24489772delGAG	ENST00000568797.1	+	0	175				AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NR_026908.1																						gaggagggaagaggaggaggagg	0.502													4	2	---	---	---	---					
PPP1R15A	23645	broad.mit.edu	37	19	49377548	49377549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:49377548_49377549insG	ENST00000200453.5	+	2	1327_1328	c.1058_1059insG	c.(1057-1059)ggafs	p.G353fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	353	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACAGAGGAAGAGGAAGATGAGG	0.545													59	19	---	---	---	---					
HCFC1	3054	broad.mit.edu	37	X	153217426	153217428	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:153217426_153217428delTGC	ENST00000310441.7	-	20	6090_6092	c.5124_5126delGCA	c.(5122-5127)cat>ca	p.QH1708del	HCFC1_ENST00000369984.4_In_Frame_Del_p.QH1753del|HCFC1_ENST00000354233.3_In_Frame_Del_p.QH1639del	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1708					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTGGTGATGCTGCTGCTGGG	0.660													2	4	---	---	---	---