Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	154					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	uc003bjn.4	+	0	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_uc003bjp.4_5'UTR|PANX2_uc003bjo.4_Missense_Mutation_p.T71S	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	71					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731000													3	10					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	uc001tve.2	+	9	1423	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_uc001tvf.2_Missense_Mutation_p.R431L	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602000													14	158					3.41278e-10	3.4797e-10	1	1	0
THSD1P1	374500	broad.mit.edu	37	13	52864030	52864030	+	RNA	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:52864030C>T	uc001vgm.1	-	1		c.128G>A								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		GAATGATACTCCAAAGGAATA	0.313000													9	19					0	0	1	0	0
HEBP1	50865	broad.mit.edu	37	12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	rs76698360	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	uc001rbd.3	-	3	733	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	Homo sapiens heme binding protein 1 (HEBP1), mRNA.	180					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587000													35	119					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591133	33591133	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	uc001uus.3	+	0	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	185	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736000													8	6					0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	uc002yrn.3	+	2	395	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_uc011adv.2_Missense_Mutation_p.T14S	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	83					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CAGAATATTACTAGTACCAAA	0.308000													3	28					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	rs137854136		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	uc002con.3	+	39	5241	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.A1689G|TSC2_uc002coo.3_Missense_Mutation_p.A1645G|TSC2_uc010uvv.2_Missense_Mutation_p.A1609G|TSC2_uc010uvw.2_Missense_Mutation_p.A1597G|TSC2_uc002cop.3_Missense_Mutation_p.A1468G|TSC2_uc002coq.3_Missense_Mutation_p.A487G	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1712	Rap-GAP.		A -> E (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity	p.V1711M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				71	107					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	uc003uwg.1	-	13	2732	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	575	Gln-rich.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657000													25	18					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	uc021olw.1	+	21	9799	c.9799G>C	c.(9799-9801)Gag>Cag	p.E3267Q	MACF1_uc021ols.1_Missense_Mutation_p.E2765Q|MACF1_uc001cdc.2_Missense_Mutation_p.E2744Q|MACF1_uc021olt.1_Missense_Mutation_p.E2765Q|MACF1_uc001cda.1_Missense_Mutation_p.E2652Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4832					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453000													88	175					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	uc001wrc.1	-	32	6365	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_uc001wra.1_Missense_Mutation_p.T85R|HECTD1_uc001wrb.1_Missense_Mutation_p.T85R|HECTD1_uc001wrd.1_Missense_Mutation_p.T1427R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAGACTTTGTTCCATGCTC	0.358000													4	199					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	uc001szt.3	+	2	1457	c.1025T>C	c.(1024-1026)gTa>gCa	p.V342A	TMTC2_uc001szr.1_Missense_Mutation_p.V342A|TMTC2_uc001szs.1_Missense_Mutation_p.V342A|TMTC2_uc010suk.2_Missense_Mutation_p.V97A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	342						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448000													6	141					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686109	1686109	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	uc001aic.3	-	7	939	c.717G>A	c.(715-717)cgG>cgA	p.R239R	NADK_uc001aid.4_Silent_p.R239R|NADK_uc001aie.3_Silent_p.R384R|NADK_uc010nyv.2_Silent_p.R207R|NADK_uc009vkx.1_Silent_p.R117R	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	239					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647000													5	229					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837606	837606	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	uc001lry.3	+	6	747	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Missense_Mutation_p.I201M|CD151_uc001lsa.3_Missense_Mutation_p.I201M|CD151_uc001lsb.3_Missense_Mutation_p.I201M	NM_004357	NP_620599	P48509	CD151_HUMAN	Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA.	201					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642000													5	66					0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63721927	63721927	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	uc009yoz.3	+	7	817	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_uc010rmw.2_Silent_p.G190G|NAA40_uc010rmx.2_Silent_p.G209G|NAA40_uc010rmy.2_Non-coding_Transcript	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	230							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582000													12	73					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407234	77407234	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:77407234G>C	uc021sqy.1	-	7	5081	c.4505C>G	c.(4504-4506)tCt>tGt	p.S1502C		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1502	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCAAGACCAGAGCATAGCTG	0.542000													35	48					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	uc003zue.4	-	2	1104	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612000													8	53					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000													4	46					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	uc001vnh.3	+	25	3211	c.2972G>C	c.(2971-2973)tGc>tCc	p.C991S	FARP1_uc001vnj.3_Missense_Mutation_p.C960S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	960	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAAACTTCTGCCTGTTCTTC	0.562000											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	61					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	uc001tsa.2	+	21	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572000													5	186					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669799	46669799	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	uc002inr.3	-	1	641	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	194						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632000													40	47					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381050	34381050	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	uc003zuh.1	-	4	770	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_uc003zug.1_Silent_p.C49C|C9orf24_uc022bgb.1_Silent_p.C49C|C9orf24_uc003zuf.1_Intron|C9orf24_uc003zui.1_Silent_p.C49C	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677000													3	23					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67111542	67111542	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	uc002jhw.1	-	11	1756	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368000													40	65					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615104	615104	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	uc002chk.3	+	2	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank|NHLRC4_uc021szs.1_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741000													22	31					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815408	242815408	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:242815408C>G	uc010fzu.1	+	1	1724	c.1701C>G	c.(1699-1701)atC>atG	p.I567M		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	567						integral to membrane											ACCCCGGGATCTACCCGCAGC	0.647000													12	267					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	uc001jzk.3	-	10	2060	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_uc001jzj.3_Missense_Mutation_p.I419F|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.I268F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	664	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542000													32	76					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	uc003vwq.1	+	0	453	c.453C>G	c.(451-453)agC>agG	p.S151R		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	151					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468000													7	342					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	uc010pye.2	+	5	2465	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	FMN2_uc010pyd.2_Missense_Mutation_p.S743L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572000													13	30					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	uc003nfs.1	-	0	114	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	38					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642000													7	240					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33529816	33529816	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	uc001rll.1	-	6	1818	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_uc009zju.1_Silent_p.S317S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	507						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413000													35	61					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:62839353A>G	uc002yii.3	+	6	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	33					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	uc003urv.2	-	10	1173	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	CYP3A4_uc003urw.2_Missense_Mutation_p.L355V|CYP3A4_uc011kiz.2_Missense_Mutation_p.L315V	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	356					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCATGTCAAGATACTCCATC	0.398000													5	86					0	0	1	0	0
PTGDR2	11251	broad.mit.edu	37	11	60620596	60620596	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60620596G>C	uc021qkc.1	-	0	600	c.600C>G	c.(598-600)aaC>aaG	p.N200K	PTGDR2_uc001nqc.2_Missense_Mutation_p.N200K	NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	Homo sapiens prostaglandin D2 receptor 2 (PTGDR2), mRNA.	200					immune response	integral to plasma membrane	N-formyl peptide receptor activity										CCTGCCGCGAGTTGCACGTGG	0.667000													6	21					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	uc002jkp.3	+	3	1908	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_uc002jkq.3_3'UTR|GPRC5C_uc002jkr.3_Missense_Mutation_p.A433V|GPRC5C_uc002jkt.3_Missense_Mutation_p.A421V|GPRC5C_uc002jku.3_Missense_Mutation_p.A176V	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	421						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637000													12	179					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47383224	47383224	+	Silent	SNP	T	T	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	uc002leb.2	-	29	4269	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_uc002lea.2_Intron	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1327					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488000													23	35					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	uc002gim.2	-	7	988	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.L265P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L133P|TP53_uc010cnf.1_Missense_Mutation_p.L133P|TP53_uc002gii.1_Missense_Mutation_p.L133P|TP53_uc010cni.1_Missense_Mutation_p.L265P|TP53_uc010cnh.1_Missense_Mutation_p.L265P|TP53_uc002gij.2_Missense_Mutation_p.L265P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(30)|p.L265R(9)|p.0?(8)|p.L264L(5)|p.G262_F270delGNLLGRNSF(4)|p.L264fs*81(4)|p.L264del(4)|p.G262_S269delGNLLGRNS(4)|p.L265M(4)|p.L265fs*80(3)|p.L264I(3)|p.?(3)|p.L265del(3)|p.L265L(3)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265Q(2)|p.264_265insSSGNL(1)|p.E258fs*71(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L264V(1)|p.L264P(1)|p.L264R(1)|p.S261_L264>R(1)|p.N263fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCCGTCCCAGTAGATTACC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	4					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	uc003ctz.2	-	12	1724	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	575	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612000													28	99					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	uc003qkt.3	+	67	9732	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3214					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423000													5	28					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	uc002lmt.3	+	1	1222	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	SALL3_uc010dra.3_Missense_Mutation_p.E15Q	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E408V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657000													9	20					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57976627	57976627	+	Silent	SNP	G	G	C	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	uc002aei.3	+	12	1463	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_uc002aej.3_Silent_p.V416V|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Intron|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aer.1_Non-coding_Transcript|GCOM1_uc002aes.3_5'UTR	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	444					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GTGAAATTGTGATGCCTTCTA	0.433000													4	164					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	uc002xui.3	-	2	1334	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	363							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473000													10	166					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	uc002pwy.3	-	1	368	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P54T|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.P54T|SIGLEC6_uc002pxa.3_Missense_Mutation_p.P54T|SIGLEC6_uc010eoz.2_Missense_Mutation_p.P54T|SIGLEC6_uc010epa.2_Missense_Mutation_p.P43T|SIGLEC6_uc010epb.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597000													32	27					3.99451e-17	4.12678e-17	1	1	0
BRD1	23774	broad.mit.edu	37	22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	uc011arg.2	-	0	863	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.K283N|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.K283N	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	283					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647000													8	108					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	uc003jbu.3	-	9	1372	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	436					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.A436A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTGAACCCGCCATGATACCT	0.557000													3	63					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145149992	145149992	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	uc003qkt.3	+	68	9757	c.9665_splice	c.e68+1	p.V3222_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3222					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423000													3	25					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:144060770T>C	uc003wel.3	+	1	1126	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_uc003wek.3_Silent_p.N336N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.N336N(10)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													4	293					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	uc001tve.2	+	9	1422	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_uc001tvf.2_Missense_Mutation_p.R431W	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607000													14	161					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	uc001phr.2	+	0	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	207					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502000													64	94					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	uc003lhx.2	+	0	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	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_uc011dad.2_Missense_Mutation_p.L625V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	637	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632000													13	49					0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33564683	33564683	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:33564683C>G	uc021qfs.1	+	0	807	c.683C>G	c.(682-684)aCt>aGt	p.T228S	C11orf41_uc001mun.1_Missense_Mutation_p.T228S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	228						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GAAATGCCCACTCTTCCAGCA	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	108					0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950795	1950795	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:1950795G>C	uc022aqq.1	+	0	1437	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D	KBTBD11_uc003wpw.4_Missense_Mutation_p.E479D	NM_014867	NP_055682	O94819	KBTBB_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 11 (KBTBD11), mRNA.	479										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		GGCGCGACGAGTGGCAGGAGT	0.687000													6	6					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	33					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265832	1265832	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	uc001lta.3	+	30	7781	c.7722C>G	c.(7720-7722)gtC>gtG	p.V2574V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|V -> A (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGACTGTCCACACCTCCA	0.652000													77	204					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	uc003esy.1	-	0	711	c.446C>G	c.(445-447)gCc>gGc	p.A149G		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662000													6	93					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	uc003yzp.1	-	6	617	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_uc003yzo.1_Missense_Mutation_p.L204V|MIR937_uc022bck.1_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627000													5	14					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70144065	70144065	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:70144065A>G	uc001deo.1	+	2	1458	c.3_splice	c.e2-1	p.M1_splice				Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTTATAGGATGGAGAACCT	0.393000													7	3					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	uc002rxp.2	-	27	3220	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_uc010yop.1_Missense_Mutation_p.A941V|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.A430V|PSME4_uc010fbv.1_Missense_Mutation_p.A199V|PSME4_uc021vho.1_Missense_Mutation_p.A1040V	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1055					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.G1055W(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443000													8	114					0	0	1	0	0
PTPMT1	114971	broad.mit.edu	37	11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	uc001nfs.4	+	1	371	c.178G>C	c.(178-180)Gta>Cta	p.V60L	PTPMT1_uc001nfv.4_Missense_Mutation_p.G96A|PTPMT1_uc009ylt.3_Missense_Mutation_p.V60L|PTPMT1_uc001nfu.4_Missense_Mutation_p.G96A|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	Homo sapiens protein tyrosine phosphatase, mitochondrial 1 (PTPMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682000													3	59					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	uc001ylw.2	+	5	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_uc010txw.2_3'UTR|TECPR2_uc010awl.3_Missense_Mutation_p.R237W|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	237							protein binding	p.R237Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTATGCGTCACGGCCCGGGCT	0.448000													5	68					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	uc002aol.3	-	0	897	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	281					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667000													4	75					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	uc010hji.3	-	4	983	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_uc003cpu.4_Missense_Mutation_p.C197F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368000													5	94					3.59834e-05	3.64507e-05	1	1	0
AX746964	0	broad.mit.edu	37	5	140242564	140242564	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140242564G>C	uc003lhy.1	-	0	661	c.412C>G	c.(412-414)Cca>Gca	p.P138A	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					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		CCACTTGGTGGCGAAGGTGCG	0.642000													7	17					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551833	100551833	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100551833C>A	uc003uxl.1	+	0	1084	c.284C>A	c.(283-285)aCt>aAt	p.T95N	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTCAAACAACTCCTTCTACT	0.438000													17	488					8.60227e-14	8.82865e-14	1	1	0
ADCY1	107	broad.mit.edu	37	7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	uc003tne.4	+	6	1432	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_uc003tnd.3_Missense_Mutation_p.E247K	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	472					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCATAACATCGAAACCTTTTT	0.483000													17	48					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	uc002qxa.3	-	16	3472	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1136					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652000													21	71					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091702	38091702	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	uc003gtb.3	+	12	2558	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_uc011byd.2_Silent_p.L828L|TBC1D1_uc010ifd.3_Silent_p.L521L|TBC1D1_uc011byf.1_Silent_p.L605L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	734						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACAGATACTGCTGCTTAGAAT	0.468000													6	130					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	uc001kcs.1	+	1	306	c.102G>C	c.(100-102)aaG>aaC	p.K34N	GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	34					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448000													33	77					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	uc003ncd.1	-	17	2885	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_uc011dje.1_Silent_p.S926S|NUP153_uc010jpl.1_Silent_p.S853S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388000													32	40					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	uc002wsi.3	-	1	1033	c.676G>A	c.(676-678)Gcc>Acc	p.A226T		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	226					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677000													4	109					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	uc010sge.2	-	13	3540	c.3514G>A	c.(3514-3516)Ggg>Agg	p.G1172R	CD163L1_uc001qsy.3_Missense_Mutation_p.G1162R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1162	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517000													126	186					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	uc001mrj.4	-	17	3222	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_uc001mrk.4_Missense_Mutation_p.D889H	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	913						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						ACAAAGGAATCTTCTTCATCT	0.532000													4	136					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	uc001egm.3	-	0	170	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.V17L|CD58_uc001egp.4_Missense_Mutation_p.V17L	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	17					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)		AGCAGGCAGACCACGCTGAGG	0.741000													3	5					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	uc010zmr.2	-	12	1781	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	USP40_uc010zmt.1_Missense_Mutation_p.D238G	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	582					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373000													26	64					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	uc002yse.1	+	2	5550	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_uc002ysb.1_Missense_Mutation_p.H1834R|SON_uc002ysc.3_Missense_Mutation_p.H1834R|SON_uc002ysd.3_Missense_Mutation_p.H825R|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.H825R	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1834					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423000													4	71					0	0	1	0	0
AP5S1	55317	broad.mit.edu	37	20	3802937	3802937	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:3802937C>T	uc002wju.2	+	1	424	c.173C>T	c.(172-174)gCc>gTc	p.A58V	AP5S1_uc002wjt.3_5'UTR|AP5S1_uc002wjs.2_Missense_Mutation_p.A58V|AP5S1_uc021wab.1_Missense_Mutation_p.A58V	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	Homo sapiens chromosome 20 open reading frame 29 (C20orf29), transcript variant 2, mRNA.	58					double-strand break repair via homologous recombination		protein binding										TTAGCTGTGGCCAGGTAACCA	0.547000													23	62					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	uc010ayu.3	-	13	2973	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	956					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607000													26	116					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	uc021quf.1	-	3	527	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PHB2_uc021qug.1_Missense_Mutation_p.L106Q|PHB2_uc010sft.1_Missense_Mutation_p.L106Q|PHB2_uc010sfu.1_Missense_Mutation_p.L106Q|SCARNA12_uc001qsg.3_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	106					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532000													13	38					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723437	30723437	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	uc003gsk.1	+	0	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_uc011bxx.2_Silent_p.V131V|PCDH7_uc021xnd.1_Silent_p.V131V|PCDH7_uc021xnc.1_Silent_p.V131V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	131	Cadherin 1.				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						AGGGTCAGGTCATCGTGCTTG	0.602000													9	13					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111280	81111280	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	uc001szg.2	+	0	573	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	146					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577000													102	172					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	uc002qnm.4	+	2	1560	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A	ZNF71_uc021vcg.1_Missense_Mutation_p.G441A	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TACAGGTGCGGCCAGTGCGGG	0.647000													5	63					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	uc001jtz.2	-	6	625	c.552C>G	c.(550-552)aaC>aaG	p.N184K	ANXA7_uc001jua.2_Missense_Mutation_p.N162K|ANXA7_uc010qki.1_Missense_Mutation_p.N72K|ANXA7_uc009xre.3_Missense_Mutation_p.N91K|ANXA7_uc009xrf.1_Missense_Mutation_p.N104K	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	184							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378000													21	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	uc002mkp.3	-	2	17087	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5630	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAGCTGGTTTCTTCCAC	0.537000													3	47					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	155					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	uc002mkg.3	-	6	685	c.547G>C	c.(547-549)Gat>Cat	p.D183H	MYO1F_uc010xkf.2_Missense_Mutation_p.D183H	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	183	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552000													78	124					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	uc003jkb.1	-	8	1380	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	322						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408000													21	37					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29476672	29476672	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:29476672C>G	uc001bro.3	-	4	984	c.611G>C	c.(610-612)aGc>aCc	p.S204T	SRSF4_uc010ofy.2_Intron	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	204	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGCTTCTGCTCTTACGGGA	0.458000													17	191					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	uc003yiv.3	+	44	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_uc003yiw.3_Missense_Mutation_p.Q2714E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2739					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373000													24	54					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	uc021olw.1	+	14	8372	c.8372C>G	c.(8371-8373)tCt>tGt	p.S2791C	MACF1_uc021ols.1_Missense_Mutation_p.S2289C|MACF1_uc001cdc.2_Missense_Mutation_p.S2289C|MACF1_uc021olt.1_Missense_Mutation_p.S2289C|MACF1_uc001cda.1_Missense_Mutation_p.S2197C|MACF1_uc001cdb.1_Missense_Mutation_p.S1376C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4356					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438000													14	30					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	uc004bji.2	-	3	687	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_uc022bmi.1_Missense_Mutation_p.V132A	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	132					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408000													4	132					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151742722	151742722	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	uc010pdm.2	+	4	621	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	OAZ3_uc010pdl.2_Missense_Mutation_p.R140Q|TDRKH_uc001eyy.2_3'UTR	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	137					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGAATGATCGGAACGACAGA	0.473000													11	311					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156593086	156593086	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	uc003lwn.3	-	0	194	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	32						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTGTACAATTGTCGTTGC	0.403000													4	123					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6257194	6257194	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	uc001ije.3	+	2	597	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_uc001ijd.3_Silent_p.V51V|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.V85V|PFKFB3_uc001ijf.3_Silent_p.V71V	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577000													13	35					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	uc001gec.3	+	16	2367	c.2128C>G	c.(2128-2130)Cac>Gac	p.H710D	POU2F1_uc001gee.3_Missense_Mutation_p.H733D|POU2F1_uc010plh.2_Missense_Mutation_p.H670D|POU2F1_uc001ged.3_Missense_Mutation_p.H708D|POU2F1_uc001gef.3_Missense_Mutation_p.H722D|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	710					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617000													13	363					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	uc002kuq.3	+	33	4428	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_uc002kur.3_Missense_Mutation_p.A1448P	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1448	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGGACCCAGCCAATCTCAA	0.413000													4	111					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	uc003ujn.3	+	22	2223	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_uc003ujk.2_Missense_Mutation_p.P670A|ADAM22_uc003ujl.2_Missense_Mutation_p.P670A|ADAM22_uc003ujm.3_Missense_Mutation_p.P670A|ADAM22_uc003ujo.3_Missense_Mutation_p.P670A|ADAM22_uc003ujp.1_Missense_Mutation_p.P722A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	670	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428000													35	96					0	0	1	0	0
UCN	7349	broad.mit.edu	37	2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	uc021vfc.1	-	0	342	c.342G>C	c.(340-342)caG>caC	p.Q114H	UCN_uc002rjp.1_Missense_Mutation_p.Q114H	NM_003353	NP_003344	P55089	UCN1_HUMAN	Homo sapiens urocortin (UCN), mRNA.	114						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647000													38	46					0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200935	132200935	+	Missense_Mutation	SNP	C	C	T	rs71345556	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:132200935C>T	uc002tst.2	-	0	1533	c.1067G>A	c.(1066-1068)aGt>aAt	p.S356N						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CAGGTTGACACTGGACAGCTT	0.597000													3	25					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	uc001riq.3	+	6	727	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_uc001rio.3_Missense_Mutation_p.S208C|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.S238C|CCDC91_uc009zjl.3_Intron	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	238	Homodimerization.				protein transport	Golgi apparatus|membrane		p.S238F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368000													27	48					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60068530	60068530	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	uc001noz.3	+	4	522	c.387_splice	c.e4+1	p.L129_splice	MS4A4A_uc001npa.3_Splice_Site_p.L110_splice|MS4A4A_uc001npc.3_Splice_Site_p.L129_splice	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	129						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299000													8	11					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	uc002ffm.3	-	0	854	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_uc002ffn.3_Missense_Mutation_p.D11H	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	11					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612000			T	IGH@	MM								30	68					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	uc003oyo.3	-	14	2341	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_uc011dwj.1_Missense_Mutation_p.Q239H|GPR116_uc011dwk.1_Missense_Mutation_p.Q113H|GPR116_uc003oyp.3_Missense_Mutation_p.Q542H|GPR116_uc003oyq.3_Missense_Mutation_p.Q684H|GPR116_uc010jzi.1_Missense_Mutation_p.Q356H	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	684					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507000													35	60					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	uc003mmp.3	+	3	983	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_uc003mmq.3_Missense_Mutation_p.G250A|BTNL8_uc010jll.3_Missense_Mutation_p.G250A|BTNL8_uc011dhg.2_Missense_Mutation_p.G125A|BTNL8_uc010jlm.3_Missense_Mutation_p.G134A|BTNL8_uc011dhh.2_Missense_Mutation_p.G66A	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458000													108	168					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	uc003ung.1	+	17	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	303					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.A302S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGAGCAAACGGCCTTAC	0.433000										HNSCC(75;0.22)			4	118					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861247	108861247	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	uc001vqn.3	-	1	2643	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_uc001vqo.3_Silent_p.E790E|LIG4_uc010agf.3_Silent_p.E790E|LIG4_uc001vqp.3_Silent_p.E790E|LIG4_uc010agg.1_Silent_p.E723E|LIG4_uc021rmk.1_Silent_p.E790E	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	790					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388000								Non-homologous end-joining					17	36					0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615277	140615277	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140615277C>G	uc003ljc.1	+	0	1340	c.992C>G	c.(991-993)tCa>tGa	p.S331*						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACAGTTTGCTCAATTCAGGAC	0.478000													11	7					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	uc004ecp.4	-	8	3942	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S1199*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1022*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S1169*|ATRX_uc010nlx.1_Nonsense_Mutation_p.S1208*|ATRX_uc010nly.1_Nonsense_Mutation_p.S1182*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1237					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCAGTATGTGAAGACAGCAC	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						43	14					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991939	72991939	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	uc002fck.3	-	1	2779	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	702					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597000													13	164					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	uc010ris.2	-	0	355	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433000													5	61					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824841	113824841	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	uc001tve.2	+	9	1421	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_uc001tvf.2_Silent_p.F430F	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	462					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607000													14	162					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	uc003snc.1	+	4	1154	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_uc003sna.1_Missense_Mutation_p.D219H	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	382					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572000													5	198					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529109	43529109	+	Silent	SNP	G	G	A	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	uc003bdl.1	-	3	1162	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	371					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617000													5	240					0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	38489	38489	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrGL000209.1:38489A>T	uc010yic.2	+	0	10	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.M1L|KIR2DL2_uc002qty.3_Missense_Mutation_p.M1L	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	4					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CATGTCGCTCATGGTCGTCAG	0.617000													4	79					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	uc003ygh.2	-	15	2400	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_uc011lgo.1_Missense_Mutation_p.S545P|CDH17_uc011lgp.1_Missense_Mutation_p.S759P	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	759	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGGTAAAGAAACAATGCCT	0.493000													5	114					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	uc001wrc.1	-	32	6371	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_uc001wra.1_Missense_Mutation_p.S87C|HECTD1_uc001wrb.1_Missense_Mutation_p.S87C|HECTD1_uc001wrd.1_Missense_Mutation_p.S1429C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1961					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTAACCCAGACTTTGTTCC	0.363000													4	211					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	uc010aaa.3	+	10	1775	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	ATP12A_uc001upp.3_Missense_Mutation_p.S475L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	475					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTAAAATTCTCAGAGGTCATT	0.353000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	78					0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	uc010hoj.1	-	2	461	c.336G>C	c.(334-336)ttG>ttC	p.L112F	POU1F1_uc003dqq.1_Missense_Mutation_p.L86F	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	86					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413000													29	54					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	uc002rci.3	+	2	1486	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H	MYCN_uc010yjr.2_Missense_Mutation_p.D396H	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	396	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572000			A		neuroblastoma								5	225					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	uc003ver.2	-	10	1509	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_uc003ves.2_Missense_Mutation_p.A398E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	433					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413000													9	140					0.010729	0.0107983	1	1	0
ZNF697	90874	broad.mit.edu	37	1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	uc001ehy.1	-	2	440	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622000													13	30					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	uc001url.4	-	1	454	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	LNX2_uc001urm.1_Missense_Mutation_p.V49L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	49							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443000													4	109					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:62839350G>A	uc002yii.3	+	6	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000													3	28					0	0	1	0	0
TXNL4A	10907	broad.mit.edu	37	18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	uc002lnp.3	-	0	260	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_uc002lnr.3_Missense_Mutation_p.K40N|TXNL4A_uc010drf.3_Non-coding_Transcript|TXNL4A_uc010drg.3_Intron	NM_006701	NP_006692	P83876	TXN4A_HUMAN	Homo sapiens thioredoxin-like 4A (TXNL4A), mRNA.	40					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667000													7	18					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	uc001cce.1	-	10	2063	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	641						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612000													5	66					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	uc003edw.3	-	13	1771	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	HGD_uc003edv.3_Missense_Mutation_p.N296K	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	437					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468000													39	147					3.09479e-21	3.21858e-21	1	1	0
ARID3B	10620	broad.mit.edu	37	15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	uc002aye.3	+	8	1864	c.1663C>G	c.(1663-1665)Ccc>Gcc	p.P555A	ARID3B_uc002ayd.3_Missense_Mutation_p.P554A|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	555	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCGCAGAGCCCTCCACCAG	0.617000													6	93					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6331637	6331637	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	uc002gcp.3	-	3	560	c.465_splice	c.e3+1	p.Q155_splice	AIPL1_uc021toq.1_Splice_Site_p.Q116_splice|AIPL1_uc002gcq.3_Splice_Site_p.Q95_splice|AIPL1_uc002gcr.3_Intron|AIPL1_uc010clk.3_Splice_Site_p.Q133_splice|AIPL1_uc010cll.3_Splice_Site_p.Q155_splice|AIPL1_uc021tor.1_Splice_Site_p.Q155_splice|AIPL1_uc002gcs.3_Splice_Site_p.Q155_splice	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	155					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657000													53	19					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	uc021sxt.1	-	2	1734	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_uc010usd.2_Missense_Mutation_p.A148T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	420					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577000													22	71					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	uc003lho.2	+	0	1599	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	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_uc003lhn.2_Missense_Mutation_p.D524E|PCDHAC2_uc011dab.2_Missense_Mutation_p.D524E	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	538	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)			AGCCGCTGGACCACGAGGAGC	0.687000													87	213					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90198958	90198958	+	RNA	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:90198958G>A	uc010yts.2	+	35		c.4352G>A								Parts of antibodies, mostly variable regions.																		GTAGGAGACAGAGTCACCATC	0.488000													4	108					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	uc002mkp.3	-	2	22312	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7372	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTACTCACAAGAGTGGTTATC	0.493000													5	50					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	uc003vrk.3	+	16	2636	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_uc011kpo.2_Missense_Mutation_p.I766M|EXOC4_uc003vrl.3_Missense_Mutation_p.I477M|EXOC4_uc011kpp.2_Missense_Mutation_p.I399M|EXOC4_uc011kpq.2_Missense_Mutation_p.I155M	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	867					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522000													10	51					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37947817	37947817	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	uc002hsu.3	-	4	506	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_uc002htd.3_Silent_p.C114C|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.C114C|IKZF3_uc010cwe.3_Intron|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.C148C|IKZF3_uc002hsx.3_Intron|IKZF3_uc002hsy.3_Silent_p.C148C|IKZF3_uc002hsz.3_Intron|IKZF3_uc002hta.3_Silent_p.C148C|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.C61C|IKZF3_uc002htc.3_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	148					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACTGATTACACTGGAATG	0.438000													4	142					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA	rs55889738		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	uc002sje.1	+	0	146_147	c.35_36insGGA	c.(34-36)ctg>ctGGAg	p.28_29insE	ALMS1_uc002sjf.1_In_Frame_Ins_p.28_29insE	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	28	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(2)|p.E28_A29insE(2)		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						CCGGGCGAGCTggaggaggagg	0.698													3	3	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87027857_87027859delCTC	uc003dqn.3	-	1	584_586	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													7	58	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	uc011dvx.2	+	2	293_294	c.83_84insC	c.(82-84)agcfs	p.S28fs	RUNX2_uc011dvy.2_Frame_Shift_Ins_p.S28fs|RUNX2_uc003oxt.3_Frame_Shift_Ins_p.S14fs	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	28					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649													39	181	---	---	---	---					
CTGF	1490	broad.mit.edu	37	6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-	rs6934749	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	uc003qcz.3	-	1	425	c.219delA	c.(217-219)ccafs	p.P73fs		NM_001901	NP_001892	P29279	CTGF_HUMAN	Homo sapiens connective tissue growth factor (CTGF), mRNA.	73	IGFBP N-terminal.				DNA replication|cellular lipid metabolic process|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													2	4	---	---	---	---					
COL27A1	85301	broad.mit.edu	37	9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	uc011lxl.2	+	2	1152	c.1152delC	c.(1150-1152)agcfs	p.S384fs	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Frame_Shift_Del_p.S234fs	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	384	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532													12	218	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	uc002gmn.3	-	12	1356	c.1245delC	c.(1243-1245)accfs	p.T415fs	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	415	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V414I(1)		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						TCTGGCCTTTGGTTACGAACT	0.428													29	108	---	---	---	---					
