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
ARHGEF16	27237	broad.mit.edu	37	1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:3394457G>A	uc001akg.4	+	10	1740	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622												
ADCY10	55811	broad.mit.edu	37	1	167814945	167814945	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:167814945G>A	uc001ger.3	-	20	3161	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ADCY10_uc010plj.2_Missense_Mutation_p.R802C|ADCY10_uc009wvk.3_Missense_Mutation_p.R863C|ADCY10_uc009wvl.3_Missense_Mutation_p.R954C	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	955					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAAAAAGCGGGCACATTTC	0.488												
KIAA1614	57710	broad.mit.edu	37	1	180904433	180904433	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:180904433G>A	uc001gok.2	+	4	1455	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	463										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGAGTTCCGTCACCTGGAG	0.731												
GLUL	2752	broad.mit.edu	37	1	182356407	182356407	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:182356407C>T	uc001gpa.2	-	2	430	c.187G>A	c.(187-189)Gat>Aat	p.D63N	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.D63N|GLUL_uc001gpc.2_Missense_Mutation_p.D63N|GLUL_uc001gpd.2_Missense_Mutation_p.D63N	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	63					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CTAGAGCCATCGAAATTCCAC	0.473												
RAB3GAP2	25782	broad.mit.edu	37	1	220359030	220359030	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:220359030G>A	uc010puk.1	-	17	1997	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	RAB3GAP2_uc021pjf.1_Silent_p.N611N|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.N191N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	611					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGAGTGATGTTTCTAAGGC	0.333												
HLX	3142	broad.mit.edu	37	1	221057616	221057616	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:221057616A>G	uc001hmv.4	+	3	1494	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	346					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AAGGACAAGGAGGCTGGCGAG	0.667												
HHIPL2	79802	broad.mit.edu	37	1	222705452	222705452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:222705452G>A	uc001hnh.1	-	6	1636	c.1578_splice	c.e6-1	p.G526_splice		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	526					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCATAAGTCGACTAGACAAA	0.438												
RYR2	6262	broad.mit.edu	37	1	237787140	237787151	+	In_Frame_Del	DEL	GATTTCCATGAA	GATTTCCATGAA	-			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237787140_237787151delGATTTCCATGAA	uc001hyl.1	+	38	6112_6123	c.5992_6003delGATTTCCATGAA	c.(5992-6003)gatttccatgaadel	p.DFHE1998del		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1998	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)			CCAACTATTGGATTTCCATGAAGATTTGATGA	0.307												
RYR2	6262	broad.mit.edu	37	1	237947552	237947552	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237947552C>T	uc001hyl.1	+	89	12660	c.12540C>T	c.(12538-12540)ggC>ggT	p.G4180G	RYR2_uc010pya.2_Silent_p.G595G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4180					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)			TCAACGAAGGCGGAGAGAAAG	0.502												
OR9G9	504191	broad.mit.edu	37	11	56467944	56467944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56467944delC	uc010rjn.2	+	0	81	c.81delC	c.(79-81)ttcfs	p.F27fs	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGGGCCTCTTCGTGGTGTTCC	0.502												
LRRC55	219527	broad.mit.edu	37	11	56949854	56949854	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56949854C>T	uc001njl.2	+	0	634	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	133						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACACTTGGACCTGAGCTACAA	0.582												
OR5AN1	390195	broad.mit.edu	37	11	59132440	59132440	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:59132440G>T	uc010rks.2	+	0	509	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACTTCTGTGGGTCTAAT	0.443												
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:102822878G>A	uc001phl.3	-	4	691	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	221					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAACTCATGCGCAGCAACAAG	0.423												
GRIN2B	2904	broad.mit.edu	37	12	13724856	13724856	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:13724856T>C	uc001rbt.2	-	9	2232	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	685					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)	TTGGGCACGGTCCCAAAGCGG	0.493												
NR4A1	3164	broad.mit.edu	37	12	52448556	52448556	+	Silent	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:52448556G>T	uc001rzs.3	+	2	763	c.444G>T	c.(442-444)ccG>ccT	p.P148P	NR4A1_uc010sno.2_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.2_Silent_p.P148P|NR4A1_uc001rzt.3_Silent_p.P148P|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	148					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCTTCCAGCCGCCCCAGCTCT	0.677												
ESYT1	23344	broad.mit.edu	37	12	56536179	56536179	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:56536179G>T	uc001sjr.3	+	24	2851	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H	ESYT1_uc001sjq.3_Missense_Mutation_p.Q901H	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	901						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCAGTGGTCAGGGGCAGGTGC	0.622												
RNFT2	84900	broad.mit.edu	37	12	117217036	117217036	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:117217036C>T	uc009zwn.3	+	6	998	c.765C>T	c.(763-765)gaC>gaT	p.D255D	RNFT2_uc001twb.4_Silent_p.D255D|RNFT2_uc001twa.4_Silent_p.D165D|RNFT2_uc001twc.4_Silent_p.D3D	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	255						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGATGCTGGACTTCTTTGACC	0.547												
VSIG10	54621	broad.mit.edu	37	12	118517207	118517207	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:118517207C>A	uc001tws.3	-	3	1203	c.869G>T	c.(868-870)tGt>tTt	p.C290F		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	290	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAACACACTTGAACTT	0.542												
CCDC60	160777	broad.mit.edu	37	12	119942953	119942953	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:119942953G>A	uc001txe.3	+	6	1193	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	243										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCTGAGTCGGGCCAGTGGG	0.557												
RNF17	56163	broad.mit.edu	37	13	25425654	25425654	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:25425654C>T	uc001upr.3	+	23	3306	c.3265C>T	c.(3265-3267)Cgt>Tgt	p.R1089C	RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010tde.2_Missense_Mutation_p.R1085C|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R1028C|RNF17_uc010aac.3_Missense_Mutation_p.R287C|RNF17_uc010aad.3_Missense_Mutation_p.R141C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1089					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)		AAAAGGAGAGCGTGTTGATGT	0.333												
PCDH9	5101	broad.mit.edu	37	13	67205380	67205380	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:67205380T>C	uc001vik.3	-	3	3994	c.3302A>G	c.(3301-3303)aAg>aGg	p.K1101R	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.K1067R|PCDH9_uc010thl.2_Missense_Mutation_p.K1059R|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1101					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGTCCTCTTGTCCGGAGA	0.512												
KLF12	11278	broad.mit.edu	37	13	74387376	74387376	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:74387376C>T	uc001vjf.3	-	4	941	c.719G>A	c.(718-720)aGt>aAt	p.S240N	KLF12_uc010aeq.3_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	240					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATCATCATCACTGTCACTTTT	0.423												
HEATR5A	25938	broad.mit.edu	37	14	31852888	31852888	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr14:31852888C>T	uc001wrf.4	-	9	1620	c.1435G>A	c.(1435-1437)Gca>Aca	p.A479T	HEATR5A_uc010ami.3_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	473							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)		GAGGGTAATGCCACGGCAATG	0.468												
RYR3	6263	broad.mit.edu	37	15	34049760	34049760	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:34049760G>A	uc001zhi.3	+	59	8738	c.8668G>A	c.(8668-8670)Gga>Aga	p.G2890R	RYR3_uc010bar.3_Missense_Mutation_p.G2890R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2890					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGCAGCAGCGGATATGCCTC	0.512												
SPTBN5	51332	broad.mit.edu	37	15	42162053	42162053	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:42162053G>A	uc001zos.3	-	31	6067	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1947					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGCGGAAGCGGGCCAGGAGG	0.682												
GALK2	2585	broad.mit.edu	37	15	49620177	49620177	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:49620177A>G	uc001zxj.1	+	9	1296	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	GALK2_uc001zxi.1_Missense_Mutation_p.T389A|GALK2_uc010ufb.1_Missense_Mutation_p.T376A|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.T376A	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	400					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTCACGACTTACTGGAGCAGG	0.438												
SLC24A1	9187	broad.mit.edu	37	15	65917215	65917215	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:65917215C>A	uc010ujf.2	+	1	1084	c.797C>A	c.(796-798)gCa>gAa	p.A266E	SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.2_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.2_Missense_Mutation_p.A266E	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	266					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGTAGAAGCAAACGTCTTG	0.473												
MYO15A	51168	broad.mit.edu	37	17	18052554	18052554	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:18052554G>A	uc021trm.1	+	32	7200	c.6981G>A	c.(6979-6981)tcG>tcA	p.S2327S	MYO15A_uc021trl.1_Silent_p.S2325S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2327	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGGGACTCGGATGAGGACA	0.537												
MYO1D	4642	broad.mit.edu	37	17	31107790	31107790	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:31107790C>T	uc002hho.1	-	1	120	c.108G>A	c.(106-108)ggG>ggA	p.G36G	MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.2_Silent_p.G36G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	36	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATAGATGCGCCCTTTTTCAA	0.413												
SLC4A1	6521	broad.mit.edu	37	17	42335421	42335421	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:42335421G>A	uc002igf.4	-	10	1364	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	405	Membrane (anion exchange).		Missing (in EL4).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q404H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGCAGCCAGGACCTGGGGGC	0.597												
RBBP8	5932	broad.mit.edu	37	18	20564928	20564928	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr18:20564928T>C	uc002kua.3	+	7	807	c.684T>C	c.(682-684)taT>taC	p.Y228Y	RBBP8_uc002ktw.3_Silent_p.Y228Y|RBBP8_uc002kty.3_Silent_p.Y228Y|RBBP8_uc002ktz.3_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	228					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGACACTTATGACCAAAGTC	0.353								Homologous recombination				
C3	718	broad.mit.edu	37	19	6677900	6677900	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:6677900G>T	uc002mfm.3	-	40	5047	c.4985C>A	c.(4984-4986)cCc>cAc	p.P1662H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1662					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGTCAGTTGGGGCACCCAAA	0.557												
FKBP8	23770	broad.mit.edu	37	19	18649190	18649190	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:18649190G>A	uc002njk.1	-	4	718	c.605C>T	c.(604-606)aCg>aTg	p.T202M	FKBP8_uc010xqi.1_Missense_Mutation_p.T231M|FKBP8_uc002njj.1_Missense_Mutation_p.T203M|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	202	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTCCACAGCCGTCTTCAGGGT	0.697												
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:35232200T>G	uc002nvu.3	+	3	1377	c.914T>G	c.(913-915)gTc>gGc	p.V305G	ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413												
TMEM147	10430	broad.mit.edu	37	19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36037641C>T	uc002oaj.2	+	3	415	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	92						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A92V(2)|p.A92A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572												
NPHS1	4868	broad.mit.edu	37	19	36339161	36339161	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36339161C>T	uc002oby.3	-	9	1465	c.1309G>A	c.(1309-1311)Gta>Ata	p.V437I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	437					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.V437I(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACATTTTACGTTCAGGATG	0.582												
TTYH1	57348	broad.mit.edu	37	19	54930375	54930375	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:54930375T>C	uc002qfr.3	+	1	322	c.200T>C	c.(199-201)aTc>aCc	p.I67T	TTYH1_uc010yey.2_Missense_Mutation_p.I116T|TTYH1_uc002qfq.3_Missense_Mutation_p.I67T|TTYH1_uc002qft.3_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	67					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTCTACCTCATCCGCTTCTGC	0.682												
ZNF418	147686	broad.mit.edu	37	19	58441862	58441862	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:58441862T>A	uc002qqs.1	-	2	359	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACCTCACTAAGGAGACTC	0.483												
ALMS1	7840	broad.mit.edu	37	2	73677648	73677648	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:73677648A>G	uc002sje.1	+	7	4102	c.3991A>G	c.(3991-3993)Act>Gct	p.T1331A	ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.3_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1331	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTACCCTCTACTTTCTACTC	0.453												
INPP1	3628	broad.mit.edu	37	2	191236128	191236128	+	Nonstop_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:191236128G>C	uc002ury.4	+	6	1900	c.1200G>C	c.(1198-1200)taG>taC	p.*400Y	INPP1_uc010fsb.3_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.4_Nonstop_Mutation_p.*400Y	NM_001128928	NP_002185	P49441	INPP_HUMAN	Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	0					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CGCATACCTAGAGGAACTCTA	0.493												
PROKR2	128674	broad.mit.edu	37	20	5283335	5283335	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:5283335G>A	uc010zqw.2	-	1	514	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PROKR2_uc010zqx.2_Missense_Mutation_p.T169M|PROKR2_uc010zqy.2_Missense_Mutation_p.T169M	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	169						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAGGAGGCCGTTTGATAATT	0.488										HNSCC(71;0.22)		
SEMG2	6407	broad.mit.edu	37	20	43851266	43851266	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:43851266A>G	uc010ggz.3	+	1	1050	c.993A>G	c.(991-993)acA>acG	p.T331T	SEMG2_uc002xnk.3_Silent_p.T331T|SEMG2_uc002xnl.3_Silent_p.T331T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			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)				ACCAGGTAACAATTCATAGTC	0.373												
WFDC8	90199	broad.mit.edu	37	20	44180784	44180784	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:44180784G>A	uc002xow.3	-	5	686	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	WFDC8_uc002xox.3_Missense_Mutation_p.R203C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	203	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity	p.P202Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAGGGCTTGCGTGGGCAGAAA	0.423												
MOCS3	27304	broad.mit.edu	37	20	49575846	49575846	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:49575846C>T	uc002xvy.1	+	0	484	c.467C>T	c.(466-468)cCg>cTg	p.P156L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	156					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GAATGCGTGCCGTACACTCAG	0.657												
UMODL1	89766	broad.mit.edu	37	21	43496188	43496188	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr21:43496188G>C	uc002zag.1	+	1	151	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51L|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	51	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGGAGGCCGTGCAGACGTC	0.587												
CAV3	859	broad.mit.edu	37	3	8787341	8787341	+	Missense_Mutation	SNP	G	G	A	rs112626848		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:8787341G>A	uc003bra.3	+	1	321	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.V82I	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	82	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCTGCTGGGCGTCCCACTGGC	0.587												
RPL32	6161	broad.mit.edu	37	3	12880946	12880946	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12880946A>G	uc003bxl.3	-	1	393	c.180T>C	c.(178-180)taT>taC	p.Y60Y	RPL32_uc003bxm.3_Silent_p.Y60Y|RPL32_uc003bxn.3_Silent_p.Y60Y	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	60					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTTGCTTCCATAACCAATGT	0.483												
IQSEC1	9922	broad.mit.edu	37	3	12977752	12977752	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12977752G>A	uc003bxt.2	-	2	815	c.806C>T	c.(805-807)cCg>cTg	p.P269L	IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	269					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCCAGGGCCGGTGCCTCCTC	0.642												
ZNF385D	79750	broad.mit.edu	37	3	21606168	21606168	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:21606168C>T	uc003cce.3	-	2	582	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTCTGAATCGGGTCCATCT	0.358												
PRR23A	729627	broad.mit.edu	37	3	138724917	138724917	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:138724917G>A	uc011bms.2	-	0	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	65										endometrium(3)|kidney(1)|lung(7)	11						GGCACAGCCCGCGGCCAGGAC	0.721												
MUC4	4585	broad.mit.edu	37	3	195515160	195515160	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:195515160T>C	uc021xjp.1	-	1	3447	c.3291A>G	c.(3289-3291)gcA>gcG	p.A1097A	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGATGCTGAGGAAG	0.572												
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:6578364C>T	uc003gjf.1	+	1	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627												
PCDH7	5099	broad.mit.edu	37	4	30726111	30726111	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:30726111G>T	uc003gsk.1	+	0	4075	c.3067G>T	c.(3067-3069)Gat>Tat	p.D1023Y	PCDH7_uc011bxx.2_Missense_Mutation_p.D1023Y|PCDH7_uc021xnd.1_Missense_Mutation_p.D1023Y|PCDH7_uc021xnc.1_Missense_Mutation_p.D1023Y	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1023					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCCGTACAAGATCTACCACC	0.468												
KLB	152831	broad.mit.edu	37	4	39435838	39435838	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:39435838G>A	uc003gua.3	+	1	931	c.834G>A	c.(832-834)tcG>tcA	p.S278S	KLB_uc011byj.2_Silent_p.S278S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	278	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTCACTCGAAAGTTTGGC	0.413												
NPFFR2	10886	broad.mit.edu	37	4	73012972	73012972	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:73012972G>T	uc003hgg.2	+	3	1110	c.1012G>T	c.(1012-1014)Gtc>Ttc	p.V338F	NPFFR2_uc010iig.2_Missense_Mutation_p.V120F|NPFFR2_uc003hgi.2_Missense_Mutation_p.V239F|NPFFR2_uc003hgh.2_Missense_Mutation_p.V236F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	338					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCTCATTGTCATCATGTA	0.517												
FAM190A	7117	broad.mit.edu	37	4	91760137	91760137	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:91760137G>C	uc003hsv.4	+						FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.3_Intron	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.											NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTCTTCTTCAGTTTCGGCTTA	0.522												
CFI	3426	broad.mit.edu	37	4	110663746	110663746	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:110663746C>T	uc011cft.2	-	12	1667	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	CFI_uc003hzq.3_Missense_Mutation_p.E276K|CFI_uc003hzr.4_Missense_Mutation_p.E479K	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	479	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338												
FAT1	2195	broad.mit.edu	37	4	187541102	187541102	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:187541102T>A	uc003izf.3	-	9	6826	c.6638A>T	c.(6637-6639)aAa>aTa	p.K2213I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2213	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTAGAACACTTTCAGGCCTTC	0.498										HNSCC(5;0.00058)		
CDH9	1007	broad.mit.edu	37	5	26902769	26902769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:26902769G>A	uc003jgs.1	-	6	1238	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTAAGAATCGTGGATCAGGG	0.358												
MTX3	345778	broad.mit.edu	37	5	79284387	79284387	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:79284387C>G	uc010jag.3	-	4	429	c.402G>C	c.(400-402)ttG>ttC	p.L134F	MTX3_uc010jah.3_Missense_Mutation_p.L134F|MTX3_uc003kge.4_Missense_Mutation_p.L73F|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	134					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGATCAAACTCAAAGGAAAAG	0.453												
GPR98	84059	broad.mit.edu	37	5	89943466	89943466	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:89943466A>G	uc003kju.3	+	16	3270	c.3174A>G	c.(3172-3174)ggA>ggG	p.G1058G	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1058	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAAAAGGAGAAACGCTCA	0.413												
PCDHAC2	56137	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:140256668G>A	uc003lic.2	+	0	1738	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A537A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687												
SIM1	6492	broad.mit.edu	37	6	100838896	100838896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:100838896G>A	uc003pqj.4	-	10	2109	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	SIM1_uc021zdg.1_Nonsense_Mutation_p.R548*|SIM1_uc010kcu.3_Nonsense_Mutation_p.R548*	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	548	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTACGATATCGGTCACCTGAT	0.428												
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:117246619C>T	uc003pxm.3	+	15	1745	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.A561V(6)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393												
SHPRH	257218	broad.mit.edu	37	6	146215353	146215353	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:146215353A>G	uc003qlf.3	-	26	5027	c.4628T>C	c.(4627-4629)aTt>aCt	p.I1543T	SHPRH_uc003qle.3_Missense_Mutation_p.I1547T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1543	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTGAAATAATATCTAATAC	0.313												
SMOC2	64094	broad.mit.edu	37	6	169064764	169064764	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:169064764T>C	uc003qwr.2	+	11	1549	c.1329T>C	c.(1327-1329)ggT>ggC	p.G443G	SMOC2_uc003qws.2_Silent_p.G432G|SMOC2_uc011egu.2_Silent_p.G109G	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	432					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCCCAGAGGTCATGCTGAAA	0.299												
NOD1	10392	broad.mit.edu	37	7	30492365	30492365	+	Missense_Mutation	SNP	C	C	T	rs139576372		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:30492365C>T	uc003tav.3	-	5	1191	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	223	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCGTCTAGCCGGCCCGTGGC	0.577												
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|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.	252					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.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		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)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
WNT2	7472	broad.mit.edu	37	7	116960680	116960680	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:116960680C>T	uc003viz.3	-	1	551	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT2_uc003vja.3_Silent_p.P9P	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	84					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCAATTCCAGCGGTGCTGGCG	0.597												
MGAM	8972	broad.mit.edu	37	7	141734061	141734061	+	Splice_Site	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:141734061G>T	uc003vwy.3	+	15	1724	c.1670_splice	c.e15-1	p.R557_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	557	Maltase.				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)	TTTTGTTTCAGGAATCCTGGA	0.478												
FAM135B	51059	broad.mit.edu	37	8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr8:139164563G>A	uc003yuy.3	-	12	2326	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	FAM135B_uc003yux.3_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.R281*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)		
BNC2	54796	broad.mit.edu	37	9	16419622	16419622	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:16419622G>A	uc003zml.3	-	6	2805	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	BNC2_uc011lmw.2_Missense_Mutation_p.R794C|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R676C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AACAGTTTACGATGTAGGTTT	0.488												
LINGO2	158038	broad.mit.edu	37	9	27950347	27950347	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:27950347C>T	uc003zqv.1	-	6	973	c.323G>A	c.(322-324)cGt>cAt	p.R108H	LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqu.1_Missense_Mutation_p.R108H|LINGO2_uc022bfc.1_Missense_Mutation_p.R108H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	108						integral to membrane		p.R108H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGGAGGGAACGCAGGTTAAA	0.438												
WNK2	65268	broad.mit.edu	37	9	96051416	96051416	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:96051416A>G	uc004ati.1	+	19	4491	c.4491A>G	c.(4489-4491)ccA>ccG	p.P1497P	WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.3_Silent_p.P1460P|WNK2_uc004atk.3_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1497					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCAGCTCCAGAGGCTGCCT	0.692												
MAGEB4	4115	broad.mit.edu	37	X	30260502	30260502	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:30260502G>A	uc004dcb.3	+	0	446	c.250G>A	c.(250-252)Gac>Aac	p.D84N	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	84										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGATAAAGGCGACGAGAGCCA	0.517												
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:66937441C>T	uc004dwu.2	+	4	3410	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542									Androgen Insensitivity Syndrome			
KDM5D	8284	broad.mit.edu	37	Y	21897252	21897252	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrY:21897252T>A	uc004fug.3	-	7	1207	c.919A>T	c.(919-921)Agc>Tgc	p.S307C	KDM5D_uc011naz.2_Missense_Mutation_p.S307C|KDM5D_uc010nwy.3_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	307					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGGGCACTGCTGTGATTCTTT	0.398												
