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
ZCCHC17	51538	broad.mit.edu	37	1	31810124	31810125	+	Splice_Site	INS	-	-	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:31810124_31810125insA	uc001bsp.1	+	4	361	c.225_splice	c.e4+2	p.E75_splice	ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	75	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GGCCGAGAGGTAAAGTTCTGTG	0.426												
RPL5	6125	broad.mit.edu	37	1	93300358	93300358	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:93300358G>A	uc001doz.3	+	3	290	c.212G>A	c.(211-213)gGg>gAg	p.G71E	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G21E|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	71					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CGTATAGAGGGGGATATGATA	0.413												
BCAR3	8412	broad.mit.edu	37	1	94032953	94032953	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:94032953C>T	uc001dpz.3	-	10	2457	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	BCAR3_uc001dqa.3_Missense_Mutation_p.D728N|BCAR3_uc001dqb.3_Missense_Mutation_p.D728N|BCAR3_uc001dpx.4_Missense_Mutation_p.D404N|BCAR3_uc001dpy.3_Missense_Mutation_p.D637N	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	728	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCCACATGTCGGTTCCTTCA	0.512												
S1PR1	1901	broad.mit.edu	37	1	101705315	101705317	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:101705315_101705317delATT	uc021oqt.1	+	0	775_777	c.775_777delATT	c.(775-777)attdel	p.I260del	S1PR1_uc001dud.2_In_Frame_Del_p.I260del|S1PR1_uc009weg.2_In_Frame_Del_p.I260del	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CAAGACCGTAATTATCGTCCTGA	0.591												
CD58	965	broad.mit.edu	37	1	117078713	117078713	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:117078713G>A	uc001egm.3	-	2	623	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	168	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343												
SPAG17	200162	broad.mit.edu	37	1	118623774	118623774	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118623774A>T	uc001ehk.2	-	14	2227	c.2159T>A	c.(2158-2160)cTg>cAg	p.L720Q	SPAG17_uc021oss.1_Missense_Mutation_p.L41Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	720						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCTAACAGCTGTCTATT	0.443												
SPAG17	200162	broad.mit.edu	37	1	118628591	118628591	+	Silent	SNP	A	A	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118628591A>C	uc001ehk.2	-	12	1784	c.1716T>G	c.(1714-1716)acT>acG	p.T572T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	572						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGACGTTTAGTGTTGTTCC	0.388												
SPTA1	6708	broad.mit.edu	37	1	158655079	158655079	+	Missense_Mutation	SNP	C	C	T	rs121918641		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:158655079C>T	uc001fst.1	-	1	282	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	28			R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTTCCTGACGCCTCTCCTG	0.458												
LEFTY2	7044	broad.mit.edu	37	1	226127121	226127121	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:226127121G>A	uc001hpt.2	-	2	920	c.677C>T	c.(676-678)gCg>gTg	p.A226V	LEFTY2_uc010pvk.2_Missense_Mutation_p.A192V|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	226					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCGGCTGGCGCCCCCTGCGA	0.701												
RTKN2	219790	broad.mit.edu	37	10	63957757	63957757	+	Silent	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:63957757G>T	uc001jlw.3	-	11	1837	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.T234T	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	580					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTCAAAATTGGTTTTAGTGT	0.448												
CHUK	1147	broad.mit.edu	37	10	101981868	101981868	+	Splice_Site	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:101981868C>T	uc001kqp.3	-	4	440	c.385_splice	c.e4+1	p.G129_splice		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	129	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTGATACGTACCTATATCACT	0.313												
LGR4	55366	broad.mit.edu	37	11	27390538	27390538	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:27390538C>T	uc001mrj.4	-	17	2217	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	LGR4_uc001mrk.4_Missense_Mutation_p.G554S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	578						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GAAATCAAGCCTATAAACAAT	0.378												
HARBI1	283254	broad.mit.edu	37	11	46637480	46637480	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:46637480C>T	uc001ncy.3	-	1	556	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	103						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATTGGCAACACAACGACTCAT	0.488												
VWF	7450	broad.mit.edu	37	12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:6091103C>T	uc001qnn.1	-	41	7386	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2379					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612												
KRT3	3850	broad.mit.edu	37	12	53185580	53185580	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:53185580C>T	uc001say.3	-	5	1275	c.1209G>A	c.(1207-1209)acG>acA	p.T403T		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	403	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCCAGCCGTGGTCTGCA	0.527												
OR6C4	341418	broad.mit.edu	37	12	55945614	55945614	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:55945614G>A	uc010spp.2	+	0	604	c.604G>A	c.(604-606)Gtt>Att	p.V202I		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTCTTGGCCGTTGTGACTCT	0.483												
GLIPR1	11010	broad.mit.edu	37	12	75874782	75874782	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:75874782A>G	uc001sxs.3	+	0	270	c.122A>G	c.(121-123)cAt>cGt	p.H41R	GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	41					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GTTCGAATCCATAACAAGTTC	0.378												
MGAT4C	25834	broad.mit.edu	37	12	86373908	86373908	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:86373908C>T	uc010sum.2	-	5	827	c.668G>A	c.(667-669)cGt>cAt	p.R223H	MGAT4C_uc001tal.4_Missense_Mutation_p.R199H|MGAT4C_uc001taj.4_Missense_Mutation_p.R199H|MGAT4C_uc001tak.4_Missense_Mutation_p.R199H|MGAT4C_uc001tai.4_Missense_Mutation_p.R199H|MGAT4C_uc001tah.4_Missense_Mutation_p.R199H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338												
UHRF1BP1L	23074	broad.mit.edu	37	12	100453163	100453163	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:100453163T>C	uc001tgq.3	-	13	2121	c.1892A>G	c.(1891-1893)aAa>aGa	p.K631R	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.K281R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	631										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCACAATCTTTAAAGTCTTG	0.353												
SBNO1	55206	broad.mit.edu	37	12	123794339	123794339	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:123794339C>T	uc010tap.2	-	24	3360	c.3360G>A	c.(3358-3360)gcG>gcA	p.A1120A	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1119A|SBNO1_uc010taq.2_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1120							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTGAAATAACGCATTCTGCT	0.328												
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:132281734_132281736delAGA	uc001uja.1	+	15	2686_2688	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606												
CDADC1	81602	broad.mit.edu	37	13	49865831	49865831	+	Silent	SNP	A	A	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:49865831A>C	uc001vcu.3	+	9	1610	c.1483A>C	c.(1483-1485)Aga>Cga	p.R495R	CDADC1_uc021rjm.1_Intron|CDADC1_uc010tgk.2_Silent_p.R297R|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	495							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGGTGTGTTGAGACCTGTCCC	0.488												
METTL21C	196541	broad.mit.edu	37	13	103343256	103343256	+	Silent	SNP	G	G	A	rs140891650		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:103343256G>A	uc001vpj.3	-	1	195	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	63							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGTAGCTGGCGTAATCTGTAG	0.443												
OR4N2	390429	broad.mit.edu	37	14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:20295720T>C	uc010tkv.2	+	0	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438												
RNASE11	122651	broad.mit.edu	37	14	21052495	21052495	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:21052495G>T	uc010ahw.3	-	2	475	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	RNASE11_uc010ahv.3_Missense_Mutation_p.Q47K|RNASE11_uc010ahx.3_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.3_Missense_Mutation_p.Q47K|RNASE11_uc021rnu.1_Missense_Mutation_p.Q47K	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	47						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCAATGGTCTGTTTTTCTTGG	0.378												
ARID4A	5926	broad.mit.edu	37	14	58831848	58831848	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:58831848A>G	uc001xdp.3	+	19	3295	c.3041A>G	c.(3040-3042)gAt>gGt	p.D1014G	ARID4A_uc001xdo.3_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.3_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1014					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q1013K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTAGTCAAGATGAGTCTCGA	0.413												
AHNAK2	113146	broad.mit.edu	37	14	105408457	105408457	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:105408457C>T	uc010axc.1	-	6	13451	c.13331G>A	c.(13330-13332)cGg>cAg	p.R4444Q	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4444						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTCCAGCCGCGTACTGTC	0.587												
PLCB2	5330	broad.mit.edu	37	15	40583002	40583002	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:40583002G>C	uc001zld.3	-	27	3374	c.3073C>G	c.(3073-3075)Cag>Gag	p.Q1025E	PLCB2_uc001zlc.3_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.3_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.2_Missense_Mutation_p.Q1010E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1025					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1024D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGCCGCCTGTTTCTCTCTG	0.587												
VPS39	23339	broad.mit.edu	37	15	42457929	42457929	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:42457929G>A	uc001zpd.3	-	17	1950	c.1799C>T	c.(1798-1800)gCt>gTt	p.A600V	VPS39_uc001zpc.3_Missense_Mutation_p.A589V|VPS39_uc001zpb.3_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	600					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAAGGAATAGCCAGACCCTT	0.443												
SLC27A2	11001	broad.mit.edu	37	15	50518260	50518260	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:50518260G>A	uc001zxw.3	+	5	1475	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	SLC27A2_uc010bes.3_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V180I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	415					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.V415L(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGATATTGCGTCAGAGTTCC	0.353												
ACAN	176	broad.mit.edu	37	15	89395102	89395102	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:89395102G>A	uc010upo.1	+	10	2478	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	702					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)			GGAGTGGATCGTGACCCAAGT	0.567												
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:9858195G>A	uc010uym.2	-	13	3516	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_uc002czo.4_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T912M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1069M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1069					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1069M(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGTGGCACGTGGCCCGATT	0.502												
IL4R	3566	broad.mit.edu	37	16	27373745	27373745	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:27373745G>A	uc002don.3	+	10	1314	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	IL4R_uc002dop.4_Missense_Mutation_p.V343M|IL4R_uc010bxy.3_Missense_Mutation_p.V358M|IL4R_uc002doo.3_Missense_Mutation_p.V198M	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	358					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGCATCAGCGTGGTGCGATG	0.562												
CDH8	1006	broad.mit.edu	37	16	61687974	61687974	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:61687974C>T	uc002eog.2	-	11	2893	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388												
C16orf7	9605	broad.mit.edu	37	16	89782935	89782935	+	Silent	SNP	G	G	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:89782935G>C	uc002fom.1	-	3	491	c.366C>G	c.(364-366)ctC>ctG	p.L122L	C16orf7_uc002fol.1_Silent_p.L52L|LOC100128881_uc002fon.1_Non-coding_Transcript|LOC100128881_uc002foo.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	122					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAAAAGGAGAGAGCTTTCCTC	0.567												
PRPF8	10594	broad.mit.edu	37	17	1577046	1577046	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:1577046A>G	uc002fte.3	-	21	3554	c.3440T>C	c.(3439-3441)gTt>gCt	p.V1147A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1147						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACAAGTTAACATCATGTTT	0.537												
SPDYE4	388333	broad.mit.edu	37	17	8658859	8658859	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:8658859C>T	uc010cnz.1	-	3	641	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	155										breast(1)|endometrium(2)|kidney(1)	4						GAAATGAATGCGTTGGTATTG	0.493												
MYH4	4622	broad.mit.edu	37	17	10369590	10369590	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:10369590G>A	uc002gmn.3	-	4	459	c.348_splice	c.e4+1	p.Y116_splice	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	116	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(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						GGGTGCTCACGTAGATCATCC	0.433												
ASIC2	40	broad.mit.edu	37	17	31351022	31351022	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:31351022C>T	uc002hht.3	-	5	2079	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	ASIC2_uc002hhu.3_Silent_p.A351A	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	351					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.A402A(2)|p.A351A(2)								Amiloride(DB00594)	TGTCCTTTTCCGCCAACAGAC	0.532												
C17orf53	78995	broad.mit.edu	37	17	42225478	42225478	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:42225478C>T	uc002ifi.2	+	2	544	c.307C>T	c.(307-309)Cct>Tct	p.P103S	C17orf53_uc010czq.2_Missense_Mutation_p.P103S|C17orf53_uc002ifj.2_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	103										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTAAGGCCTGTCTCTAC	0.577												
CTDP1	9150	broad.mit.edu	37	18	77513692	77513692	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr18:77513692G>A	uc002lnh.2	+	12	2935	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Missense_Mutation_p.E811K	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	930					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCGCCAGCGAGTCCAGCAG	0.617												
MATK	4145	broad.mit.edu	37	19	3783948	3783948	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:3783948G>T	uc002lyt.3	-	5	846	c.446C>A	c.(445-447)tCc>tAc	p.S149Y	MATK_uc002lyv.3_Missense_Mutation_p.S150Y|MATK_uc002lyu.3_Missense_Mutation_p.S108Y|MATK_uc010dtq.3_Missense_Mutation_p.S149Y	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	149	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCGCGGACTCCCGCAC	0.682												
NCAN	1463	broad.mit.edu	37	19	19351446	19351446	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:19351446C>T	uc002nlz.3	+	11	3543	c.3444C>T	c.(3442-3444)aaC>aaT	p.N1148N	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1148	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCGGCCTGAACGACAGGATCG	0.637												
NR1H2	7376	broad.mit.edu	37	19	50882422	50882423	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:50882422_50882423insG	uc010enw.3	+	6	1380_1381	c.911_912insG	c.(910-912)aagfs	p.K304fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.K207fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	304	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCCTCCTGAAGGCATCCACTA	0.574												
KIR2DL1	3802	broad.mit.edu	37	19	55284915	55284915	+	Silent	SNP	C	C	T	rs144426670	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:55284915C>T	uc010erz.1	+	2	239	c.201C>T	c.(199-201)aaC>aaT	p.N67N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.N67N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	67	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517												
ZSCAN1	284312	broad.mit.edu	37	19	58565272	58565272	+	Silent	SNP	C	C	T	rs144381428		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:58565272C>T	uc002qrc.1	+	5	1327	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	360					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662												
KIDINS220	57498	broad.mit.edu	37	2	8943255	8943255	+	Silent	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:8943255A>G	uc002qzc.2	-	7	788	c.606T>C	c.(604-606)aaT>aaC	p.N202N	KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	202					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCATTGAATTCTAAAAAC	0.299												
IL18RAP	8807	broad.mit.edu	37	2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:103068411C>T	uc002tbx.3	+	11	2054	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_uc010fiz.3_Missense_Mutation_p.P382S	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	524	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.P524S(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418												
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:109292448C>T	uc002teg.3	+	5	738	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_uc002tel.3_Silent_p.R215R|LIMS1_uc002teh.3_Silent_p.R203R|LIMS1_uc002tei.3_Silent_p.R207R|LIMS1_uc002tej.3_Silent_p.R240R|LIMS1_uc002tek.4_Silent_p.R265R	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537												
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567												
DPP10	57628	broad.mit.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:116447456G>A	uc002tle.3	+	6	568	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	179					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438												
CRYBB2	1415	broad.mit.edu	37	22	25627599	25627599	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr22:25627599C>T	uc003abp.1	+	5	526	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	160	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCCCGGCTACCGTGGGCTGCA	0.637												
CYP8B1	1582	broad.mit.edu	37	3	42916850	42916850	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:42916850C>T	uc003cmh.3	-	0	784	c.459G>A	c.(457-459)acG>acA	p.T153T	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	153					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGCCTTTGGACGTCAGCATTA	0.512												
MYLK	4638	broad.mit.edu	37	3	123376130	123376130	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:123376130C>T	uc003ego.3	-	23	4413	c.4131G>A	c.(4129-4131)acG>acA	p.T1377T	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.T177T|MYLK_uc011bjw.2_Silent_p.T1377T|MYLK_uc003egp.3_Silent_p.T1308T|MYLK_uc003egq.3_Silent_p.T1377T|MYLK_uc003egr.3_Silent_p.T1308T|MYLK_uc003egs.3_Silent_p.T1201T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1377	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTCCTTCCACGTCTTGTTGG	0.542												
RTP1	132112	broad.mit.edu	37	3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:186917604C>T	uc003frg.3	+	1	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682												
HPSE	10855	broad.mit.edu	37	4	84223384	84223384	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:84223384C>T	uc003hoj.4	-	9	1343	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	HPSE_uc003hoi.3_Missense_Mutation_p.G357D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.G158D|HPSE_uc003hok.4_Missense_Mutation_p.G415D|HPSE_uc011cct.2_Missense_Mutation_p.G341D	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	415					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CACCTTGGTGCCCACCAATTT	0.403												
ZFP42	132625	broad.mit.edu	37	4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:188924752C>T	uc003izh.1	+	3	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	264					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483												
AHRR	57491	broad.mit.edu	37	5	422883	422883	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:422883G>A	uc003jav.3	+	5	536	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AHRR_uc003jaw.3_Missense_Mutation_p.V165M|AHRR_uc010isy.3_Missense_Mutation_p.V11M|AHRR_uc010isz.3_Missense_Mutation_p.V161M|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Missense_Mutation_p.V21M	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	165	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTACATCCACGTGGACGACCG	0.547												
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468												
PIK3R1	5295	broad.mit.edu	37	5	67576379	67576379	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:67576379A>T	uc003jva.3	+	5	1238	c.658A>T	c.(658-660)Att>Ttt	p.I220F		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	220	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAAGAATATATTCAGCTATT	0.343			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
ZNF608	57507	broad.mit.edu	37	5	123984804	123984804	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:123984804C>A	uc003ktq.1	-	3	1456	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	425						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTCCAGGTCACTTGTCGGT	0.552												
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:147781654G>A	uc003lpf.1	+	3	492	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	124						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448												
NDUFAF4	29078	broad.mit.edu	37	6	97344693	97344693	+	Missense_Mutation	SNP	C	C	T	rs142963790		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:97344693C>T	uc003pow.3	-	1	257	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	56					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TTCATCTTTACGAGCAATCTC	0.333												
GRM1	2911	broad.mit.edu	37	6	146755476	146755476	+	Silent	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:146755476C>A	uc010khw.1	+	8	3599	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1043					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCAGTACCGCGATCCCGG	0.672												
TIAM2	26230	broad.mit.edu	37	6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:155566797C>T	uc003qqb.3	+	20	4857	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	TIAM2_uc003qqe.3_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.3_Missense_Mutation_p.A728V|TIAM2_uc003qqf.3_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.3_Missense_Mutation_p.A507V|TIAM2_uc003qqh.3_Missense_Mutation_p.A120V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1195	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1195V(2)|p.Y1194Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTATTACGCGGACCACTTT	0.403												
ZPBP	11055	broad.mit.edu	37	7	50097645	50097645	+	Missense_Mutation	SNP	C	C	T	rs148913753		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:50097645C>T	uc003tou.3	-	3	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	143					binding of sperm to zona pellucida	extracellular region		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:72093896C>T	uc011kej.2	-	13	1749	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	531					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGTCAGGATTCCCCAGGGACA	0.537												
EPO	2056	broad.mit.edu	37	7	100319586	100319586	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:100319586C>T	uc003uwi.3	+	3	341	c.160_splice	c.e3-1	p.T54_splice	EPO_uc011kkc.1_Splice_Site_p.T54_splice	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	54					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCATTTCAGACGGGCTGTGCT	0.532												
LAMB1	3912	broad.mit.edu	37	7	107575937	107575937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:107575937G>A	uc003vev.2	-	24	4344	c.4183C>T	c.(4183-4185)Caa>Taa	p.Q1395*	LAMB1_uc003vew.2_Nonsense_Mutation_p.Q1371*	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1371	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCCTCTTGTTTTTCCTTG	0.532												
ASZ1	136991	broad.mit.edu	37	7	117024875	117024875	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:117024875C>G	uc003vjb.2	-	5	655	c.592G>C	c.(592-594)Gtt>Ctt	p.V198L	ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	198					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACTTCAAAACTATATTTTTA	0.383												
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206859G>A	uc003zoq.1	-	0	284	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.L80F(2)|p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483												
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206861A>G	uc003zoq.1	-	0	282	c.236T>C	c.(235-237)gTc>gCc	p.V79A	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	79					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.V79A(4)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488												
ZNF618	114991	broad.mit.edu	37	9	116750724	116750724	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:116750724C>T	uc004bid.3	+	2	300	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.3_Silent_p.P67P|ZNF618_uc011lxi.2_Silent_p.P67P|ZNF618_uc011lxj.2_Silent_p.P67P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGAGCTGCCCGATGACTACA	0.632												
SNAPC4	6621	broad.mit.edu	37	9	139282191	139282192	+	Splice_Site	INS	-	-	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:139282191_139282192insA	uc004chh.3	-	11	1239	c.1230_splice	c.e11+1	p.A410_splice		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	410	HTH myb-type 2.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGCACACTTACAGCATCTTC	0.579												
NOXA1	10811	broad.mit.edu	37	9	140325755	140325755	+	Missense_Mutation	SNP	G	G	A	rs141558298		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:140325755G>A	uc004cmu.3	+	7	901	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	NOXA1_uc004cmv.3_Missense_Mutation_p.G256S|NOXA1_uc010nch.3_Missense_Mutation_p.G200S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	256					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GACAGAGGTCGGTGCTGACCG	0.672												
TUBBP5	643224	broad.mit.edu	37	9	141071420	141071420	+	Missense_Mutation	SNP	G	G	A	rs147421666	by1000genomes	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:141071420G>A	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.D347N(3)									CTGGTTCCCCGACAACGTAAA	0.512												
ARHGAP6	395	broad.mit.edu	37	X	11160414	11160414	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:11160414G>A	uc004cup.1	-	11	3069	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	732					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATATCGAAAGGCTCCT	0.318												
SCML2	10389	broad.mit.edu	37	X	18348708	18348708	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:18348708C>T	uc004cyl.2	-	3	248	c.91_splice	c.e3+1	p.D31_splice	SCML2_uc004cyk.3_Splice_Site|SCML2_uc010nfd.1_Splice_Site_p.D31_splice|SCML2_uc011miz.1_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	31					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AAAACCTACCCCTTTGTACAG	0.308												
DCAF8L2	347442	broad.mit.edu	37	X	27765650	27765650	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:27765650C>A	uc011mjy.2	+	0	725	c.638C>A	c.(637-639)gCc>gAc	p.A213D		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGGGCAAGAGCCTTTGTGCAG	0.592												
FAM47C	442444	broad.mit.edu	37	X	37028542	37028542	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:37028542G>A	uc004ddl.2	+	0	2111	c.2059G>A	c.(2059-2061)Gta>Ata	p.V687I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	687								p.R686H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.657												
BCORL1	63035	broad.mit.edu	37	X	129149265	129149265	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:129149265G>A	uc022cdu.1	+	2	2561	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	BCORL1_uc010nrd.1_Silent_p.A741A	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	839					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACCACCAGGCGTCTCTGCTTT	0.607												
GPR112	139378	broad.mit.edu	37	X	135485475	135485475	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135485475C>A	uc004ezu.1	+	21	8939	c.8648C>A	c.(8647-8649)aCt>aAt	p.T2883N	GPR112_uc010nsb.1_Missense_Mutation_p.T2678N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2883					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)					AGCCCAACAACTCCGTTGTAA	0.498												
RBMX	27316	broad.mit.edu	37	X	135961572	135961572	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135961572A>T	uc004fae.2	-	1	225	c.15T>A	c.(13-15)gaT>gaA	p.D5E	RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	5						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGGGCGATCTGCTTCAA	0.403												
