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
XKR4	114786	broad.mit.edu	37	8	56270384	56270384	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:56270384T>G	ENST00000327381.5	+	2	1053	c.953T>G	c.(952-954)cTg>cGg	p.L318R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	318						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCACAGCTGGTCCTGCAG	0.463000													14	40					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129236	248129236	+	Silent	SNP	A	A	G	rs75127345	byFrequency	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:248129236A>G	ENST00000366480.3	+	1	702	c.603A>G	c.(601-603)tcA>tcG	p.S201S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTCTACTATCATTGGTGTGTC	0.428000													13	40					0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106397398	106397398	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:106397398T>A	ENST00000372466.4	-	5	524	c.273A>T	c.(271-273)caA>caT	p.Q91H	NUP62CL_ENST00000372461.3_Intron	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	91					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						AGTACTTCTCTTGATCTTCCA	0.398000													15	45					0	0	1	0	0
FBXO2	26232	broad.mit.edu	37	1	11708839	11708839	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:11708839C>G	ENST00000354287.4	-	6	1144	c.803G>C	c.(802-804)cGc>cCc	p.R268P		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	268	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTCGAAGCGGACGAAGCG	0.667000													21	81					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371445	240371445	+	Silent	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:240371445C>T	ENST00000319653.9	+	5	3563	c.3333C>T	c.(3331-3333)ccC>ccT	p.P1111P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1111	FH1.|Pro-rich.				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)			CTCCTCCGCCCCCTCTACCCG	0.726000													6	27					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731669	57731669	+	Missense_Mutation	SNP	G	G	A	rs147998969		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:57731669G>A	ENST00000281282.5	+	2	1550	c.1472G>A	c.(1471-1473)aGt>aAt	p.S491N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	491	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGTGCACAGAGTAAAAAGGAG	0.532000													16	26					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425655	65425655	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:65425655G>T	ENST00000330909.8	-	9	1168	c.1169C>A	c.(1168-1170)cCg>cAg	p.P390Q	MAGI1_ENST00000497477.2_Missense_Mutation_p.P390Q|MAGI1_ENST00000402939.2_Missense_Mutation_p.P390Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.P390Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	390	WW 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCTAGAACCGGGTTCTCATA	0.507000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	69					4.34311e-12	5.12629e-12	1	1	0
PSG11	5680	broad.mit.edu	37	19	43529170	43529170	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:43529170G>T	ENST00000401740.1	-	2	206	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.Q35K|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	35	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATCATGACTTGGGCAGTGGTA	0.468000													26	172					2.4375e-19	3.07894e-19	1	1	0
DONSON	29980	broad.mit.edu	37	21	34955849	34955849	+	Silent	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:34955849G>A	ENST00000453626.1	-	5	913	c.909C>T	c.(907-909)atC>atT	p.I303I	DONSON_ENST00000432378.1_Silent_p.I303I|DONSON_ENST00000303071.5_Silent_p.I303I|DONSON_ENST00000303113.6_Silent_p.I289I			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	303					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGAGAGCTGTGATTAAGTCAC	0.363000													9	33					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075545	41075545	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr22:41075545C>G	ENST00000249016.4	+	1	792	c.96C>G	c.(94-96)aaC>aaG	p.N32K	MCHR1_ENST00000498400.1_Intron|MCHR1_ENST00000381433.2_Missense_Mutation_p.N32K	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	32			N -> D (no significant functional differences; dbSNP:rs133072).		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCCTTCCCAACTGCGGGGCTT	0.687000													13	52					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166960634	166960634	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:166960634T>A	ENST00000367872.4	+	3	489	c.245T>A	c.(244-246)cTg>cAg	p.L82Q	MAEL_ENST00000367870.2_Missense_Mutation_p.L51Q|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	82					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCACACCACTGAGGAGGCCA	0.388000													24	157					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637678	158637678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:158637678C>T	ENST00000368148.3	-	15	2188	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E670K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	670					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAACTCCTCCCAGAGGCTG	0.438000													12	36					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447369	226447369	+	Silent	SNP	G	G	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:226447369G>C	ENST00000272907.6	+	4	1649	c.1236G>C	c.(1234-1236)tcG>tcC	p.S412S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	412	Pro-rich.																CGCTCTCCTCGTCGCCCCCAC	0.687000													3	14					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916432	28916432	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr18:28916432T>C	ENST00000257192.4	+	9	1333	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	374	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCAATTTCTGTGACTGTGTTA	0.363000													10	37					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		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)		CCAAGAGCAGACGTCCTTCCG	0.527000													4	35					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59060877	59060877	+	Silent	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:59060877A>G	ENST00000253024.5	+	13	2131	c.1842A>G	c.(1840-1842)ccA>ccG	p.P614P	TRIM28_ENST00000341753.6_Silent_p.P532P	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	614					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCTCAGCCCCAGGTGGTGGCC	0.627000													20	61					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132968066	132968066	+	Silent	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:132968066T>A	ENST00000254624.5	+	7	915	c.690T>A	c.(688-690)ccT>ccA	p.P230P	EFR3A_ENST00000334503.4_Silent_p.P230P|EFR3A_ENST00000519656.1_Silent_p.P194P	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	230						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AAGAGAATCCTGCTGTGCTGG	0.403000													20	124					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160039894	160039894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:160039894G>A	ENST00000327245.5	-	18	3538	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	898					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGTATCTGGAACTCCTTCC	0.517000													6	19					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680070	43680070	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:43680070C>T	ENST00000404580.1	-	3	749	c.661G>A	c.(661-663)Gac>Aac	p.D221N	PSG5_ENST00000599812.1_Missense_Mutation_p.D314N|PSG5_ENST00000366175.3_Missense_Mutation_p.D221N|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Missense_Mutation_p.D221N|PSG5_ENST00000407356.1_Missense_Mutation_p.D221N			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	221	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCATCTCGGTCCCGTATTTCA	0.502000													50	159					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12728642	12728642	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:12728642C>T	ENST00000380682.1	+	14	2101	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	532					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAAACACAGCGACCCAGGAA	0.468000													27	99					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905305	129905305	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr10:129905305T>C	ENST00000368654.3	-	13	5174	c.4799A>G	c.(4798-4800)cAc>cGc	p.H1600R	MKI67_ENST00000368653.3_Missense_Mutation_p.H1240R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1600	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTCAGTGTGACCTCGTGT	0.493000													9	96					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534057	55534057	+	Silent	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:55534057C>A	ENST00000220676.1	+	2	679	c.531C>A	c.(529-531)acC>acA	p.T177T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	177	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGGGTCACCCAGAGCTTCG	0.637000													42	227					9.39024e-22	1.19663e-21	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114397667	114397667	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:114397667G>T	ENST00000359785.5	-	8	680	c.545C>A	c.(544-546)aCt>aAt	p.T182N	PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.T182N|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.T182N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	182	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATAGTTCGAGTTTCCTATAA	0.438000													14	18					2.31682e-05	2.47128e-05	1	1	0
PCP4	5121	broad.mit.edu	37	21	41300918	41300918	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:41300918A>G	ENST00000328619.5	+	3	256	c.71A>G	c.(70-72)aAg>aGg	p.K24R	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	24					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				GATGGACAGAAGAAAGTTCAA	0.448000													22	49					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157360	26157360	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:26157360C>A	ENST00000325250.1	+	2	445	c.258C>A	c.(256-258)agC>agA	p.S86R		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	86							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGGTGCCAGCAGCCAAGATG	0.498000													11	34					1.61879e-10	1.85005e-10	1	1	0
HMGN5	79366	broad.mit.edu	37	X	80375311	80375311	+	Silent	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:80375311T>A	ENST00000358130.2	-	3	349	c.21A>T	c.(19-21)gcA>gcT	p.A7A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	7					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CACCTTGACCTGCAGCCTACA	0.348000													11	38					0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39627505	39627505	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:39627505A>C	ENST00000330149.5	-	3	477	c.251T>G	c.(250-252)cTa>cGa	p.L84R	TRAPPC6B_ENST00000557764.1_Intron|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.L84R	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	84					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATTTGTCCTTAGATTGTCGAT	0.274000													5	17					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14750188	14750188	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:14750188G>A	ENST00000380881.4	-	31	6312	c.5497C>T	c.(5497-5499)Cct>Tct	p.P1833S	FREM1_ENST00000380894.1_Missense_Mutation_p.P368S|FREM1_ENST00000422223.2_Missense_Mutation_p.P1832S|FREM1_ENST00000380880.3_Missense_Mutation_p.P1832S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1832					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATTCACAGGGGAGTTCAGA	0.388000													19	100					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68359131	68359131	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:68359131G>A	ENST00000393799.2	+	18	2140	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	PPP6R3_ENST00000393801.3_Missense_Mutation_p.E625K|PPP6R3_ENST00000265637.4_Missense_Mutation_p.E579K|PPP6R3_ENST00000524904.1_Missense_Mutation_p.E619K|PPP6R3_ENST00000265636.5_Missense_Mutation_p.E545K|PPP6R3_ENST00000393800.2_Missense_Mutation_p.E625K|PPP6R3_ENST00000524845.1_Missense_Mutation_p.E596K|PPP6R3_ENST00000529710.1_Missense_Mutation_p.E545K|PPP6R3_ENST00000534534.1_Missense_Mutation_p.E393K|PPP6R3_ENST00000527403.2_Missense_Mutation_p.E590K			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	625					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATATGGGAGGAAAAGCACAT	0.363000													12	95					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926926	43926926	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:43926926C>A	ENST00000282406.4	+	8	939	c.829C>A	c.(829-831)Cag>Aag	p.Q277K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	277						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCATCTCCCAGAATTCTGG	0.507000													21	36					3.10358e-05	3.28614e-05	1	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841638	8841638	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841638C>T	ENST00000324060.2	+	1	323	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAGATGGCATCAGACTTTCTG	0.567000													10	121					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531589	84531589	+	RNA	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:84531589C>T	ENST00000527857.1	+	0	1611					NR_026851.1																						TCTTGTCCAACGTGGCCATTC	0.458000													10	20					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204242842	204242842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:204242842G>A	ENST00000272203.3	-	3	330	c.14C>T	c.(13-15)aCa>aTa	p.T5I	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T5I	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	5										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTCCCACCTGTTTTATTGGA	0.522000													17	55					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108849	2108849	+	Missense_Mutation	SNP	G	G	A	rs77541266	by1000genomes	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:2108849G>A	ENST00000406869.1	-	12	1755	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R400W|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R400W|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R308W			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	400	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGCAGGACCCGTTTCTGGAGC	0.622000													27	81					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698455	111698455	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:111698455C>A	ENST00000340433.2	+	1	729	c.499C>A	c.(499-501)Cac>Aac	p.H167N		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	167							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGCTACTTTCCACCTCCTCGC	0.453000													21	51					4.35082e-09	4.89467e-09	1	1	0
C1QTNF2	114898	broad.mit.edu	37	5	159781846	159781846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:159781846C>T	ENST00000393975.3	-	2	311	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	58	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCATTCGTCCCATCATTCC	0.657000													5	17					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703893	68703893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:68703893G>T	ENST00000255078.3	+	13	2056	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	649					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TATTGTCCCAGAAAACTATTC	0.547000													54	513					9.57592e-29	1.25357e-28	1	1	0
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:72081809T>C	ENST00000438125.1	-	0	1246							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498000													5	79					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390767	22390767	+	Silent	SNP	G	G	A	rs138178541	byFrequency	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423000													5	291					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730424	110730424	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:110730424T>A	ENST00000282356.4	+	5	801	c.403T>A	c.(403-405)Tat>Aat	p.Y135N	CAMK4_ENST00000512453.1_Missense_Mutation_p.Y135N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	135	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGAAAAGGGATATTACAGTGA	0.373000													12	21					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665842	19665842	+	Silent	SNP	C	C	A	rs139129126		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:19665842C>A	ENST00000328041.6	+	12	1358	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	387						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGACAGGGCCCAGCAGTGCCC	0.517000													12	46					0.00010058	0.000104953	1	1	0
INPP5A	3632	broad.mit.edu	37	10	134523902	134523902	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr10:134523902A>G	ENST00000368594.3	+	8	866	c.589A>G	c.(589-591)Aca>Gca	p.T197A	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.T197A	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	197					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGCCTGGGAAACAAGCCCTTC	0.572000													10	9					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256802	240256802	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:240256802C>A	ENST00000319653.9	+	1	1623	c.1393C>A	c.(1393-1395)Ccg>Acg	p.P465T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	465					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)			CGTAGCCGCCCCGGCCAAGAA	0.731000													5	44					0.00116845	0.00121048	1	1	0
CLUH	23277	broad.mit.edu	37	17	2595709	2595709	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr17:2595709G>A	ENST00000570628.1	-	22	3494	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	CLUH_ENST00000435359.1_Missense_Mutation_p.A1130V|CLUH_ENST00000575014.1_Missense_Mutation_p.A1063V|CLUH_ENST00000538975.1_Missense_Mutation_p.A1130V					clustered mitochondria (cluA/CLU1) homolog																		GACGGCCAGCGCGTTCTCCAG	0.701000													7	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537370	179537370	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:179537370G>T	ENST00000589042.1	-	153	35071	c.34847C>A	c.(34846-34848)cCa>cAa	p.P11616Q	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11242Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10315Q|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11449	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGGCTGGGGGTGCCTC	0.358000													7	15					0.00198382	0.0020405	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48267357	48267357	+	Silent	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:48267357C>A	ENST00000302329.3	+	1	750	c.702C>A	c.(700-702)tcC>tcA	p.S234S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTGTGGGTCCCATTTCGCTG	0.517000													10	13					0.00621372	0.00630123	1	1	0
C8B	732	broad.mit.edu	37	1	57431546	57431546	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:57431546T>A	ENST00000371237.4	-	1	142	c.76A>T	c.(76-78)Agt>Tgt	p.S26C	C8B_ENST00000543257.1_5'UTR|RP5-1103B4.3_ENST00000417420.1_RNA|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	26					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCAGGCAAACTGAGACAGCCC	0.502000													10	30					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408892	47408892	+	Silent	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:47408892A>G	ENST00000295454.3	+	8	1321	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	GABRB1_ENST00000538619.1_Silent_p.K273K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	343					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGCTAGCAAACAAGACCAGA	0.378000													13	44					0	0	1	0	0
RABL5	64792	broad.mit.edu	37	7	100958505	100958505	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:100958505C>A	ENST00000517481.1	-	6	607	c.237G>T	c.(235-237)gaG>gaT	p.E79D	RABL5_ENST00000315322.4_Missense_Mutation_p.E156D|RABL5_ENST00000498704.2_Missense_Mutation_p.E79D|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Missense_Mutation_p.E126D			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	156							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCATCCGGATCTCCTCAGGGT	0.433000											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	26					5.50884e-06	6.00964e-06	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187713	58187713	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:58187713G>T	ENST00000318203.5	+	3	897	c.200G>T	c.(199-201)aGg>aTg	p.R67M		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	67	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACTTTATAGGATCTTTCAC	0.403000													18	70					6.49762e-13	7.7327e-13	1	1	0
SP140	11262	broad.mit.edu	37	2	231109750	231109750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:231109750G>T	ENST00000392045.3	+	6	733	c.619G>T	c.(619-621)Gga>Tga	p.G207*	SP140_ENST00000486687.2_Nonsense_Mutation_p.G207*|SP140_ENST00000350136.5_Nonsense_Mutation_p.G187*|SP140_ENST00000420434.3_Nonsense_Mutation_p.G207*|SP140_ENST00000417495.3_Nonsense_Mutation_p.G207*|SP140_ENST00000343805.6_Nonsense_Mutation_p.G207*	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	207					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGGCTGGTGGAGGAGATGC	0.458000													27	54					3.1745e-13	3.84141e-13	1	1	0
RPS21	6227	broad.mit.edu	37	20	60963367	60963367	+	Silent	SNP	T	T	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:60963367T>G	ENST00000450116.2	+	4	210	c.189T>G	c.(187-189)ggT>ggG	p.G63G	RPS21_ENST00000343986.4_Silent_p.G63G|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR			P63220	RS21_HUMAN	ribosomal protein S21	63					endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome	p.G63G(1)		endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTTAAGGGTGAGTCAGATG	0.522000													8	27					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833460	168833460	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:168833460G>T	ENST00000464456.1	-	7	2836	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K	MECOM_ENST00000460814.1_Missense_Mutation_p.Q546K|MECOM_ENST00000392736.3_Missense_Mutation_p.Q546K|MECOM_ENST00000264674.3_Missense_Mutation_p.Q611K|MECOM_ENST00000494292.1_Missense_Mutation_p.Q734K|MECOM_ENST00000472280.1_Missense_Mutation_p.Q547K|MECOM_ENST00000468789.1_Missense_Mutation_p.Q546K|MECOM_ENST00000433243.2_Missense_Mutation_p.Q547K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	56							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGCCCTTCTGCAGTTTCTTT	0.493000													28	65					1.16021e-09	1.31551e-09	1	1	0
C1QC	714	broad.mit.edu	37	1	22973880	22973880	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:22973880C>G	ENST00000374639.3	+	3	460	c.342C>G	c.(340-342)taC>taG	p.Y114*	C1QC_ENST00000374637.1_Nonsense_Mutation_p.Y114*|C1QC_ENST00000374640.4_Nonsense_Mutation_p.Y114*	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	114					complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGCAGATACAAGCAGAAAT	0.637000													47	52					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841570	8841570	+	Silent	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841570C>T	ENST00000324060.2	+	1	255	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCATGTACTTCCTGCTCA	0.552000													20	197					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753382	41753382	+	Silent	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr22:41753382T>C	ENST00000352645.4	+	23	3140	c.2883T>C	c.(2881-2883)ggT>ggC	p.G961G	ZC3H7B_ENST00000351589.4_Silent_p.G961G	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	977					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCTTGCCGGTGCCACCCCAG	0.647000													42	164					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923164	35923164	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:35923164G>A	ENST00000490799.1	-	17	2350	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	SLC26A8_ENST00000394602.2_Missense_Mutation_p.S561L|SLC26A8_ENST00000355574.2_Missense_Mutation_p.S666L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	666	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGACACGGACGATACTGTGTA	0.468000													22	108					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783871	10783871	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:10783871C>A	ENST00000075503.3	-	5	744	c.224G>T	c.(223-225)tGg>tTg	p.W75L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	75						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TCCTGCTTCCCAGCTTAGGTC	0.552000										HNSCC(73;0.22)			19	85					5.35267e-07	5.92911e-07	1	1	0
STK32A	202374	broad.mit.edu	37	5	146752778	146752778	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr5:146752778T>C	ENST00000397936.3	+	10	1157	c.824T>C	c.(823-825)gTc>gCc	p.V275A	STK32A_ENST00000398523.3_Missense_Mutation_p.V275A	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	275	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTGATGTCCAGAACTTC	0.388000													34	59					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14075930	14075930	+	Silent	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:14075930G>A	ENST00000235372.7	+	6	1315	c.459G>A	c.(457-459)gaG>gaA	p.E153E	PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.E153E|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Silent_p.E153E|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	153						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGCGATTGAGGAAGAGCGAG	0.706000													4	75					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041072	207041072	+	Silent	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:207041072G>A	ENST00000407325.2	-	3	1262	c.900C>T	c.(898-900)aaC>aaT	p.N300N	GPR1_ENST00000437420.1_Silent_p.N300N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	300						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAAGGATGGGGTTCAAGCAAC	0.483000													22	77					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685916	100685916	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:100685916G>A	ENST00000306151.4	+	3	11283	c.11219G>A	c.(11218-11220)aGc>aAc	p.S3740N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3740	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCTTGACAGCACCACCATG	0.498000													6	176					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620045	179620045	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:179620045G>A	ENST00000444136.1	+	12	2094	c.1844G>A	c.(1843-1845)tGc>tAc	p.C615Y	TDRD5_ENST00000294848.8_Missense_Mutation_p.C615Y|TDRD5_ENST00000367614.1_Missense_Mutation_p.C615Y	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	615					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGAAGTTGTGCGGTTTGAAG	0.363000													26	125					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058652	133058652	+	Silent	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr10:133058652G>T	ENST00000368642.4	-	4	811	c.726C>A	c.(724-726)acC>acA	p.T242T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	242	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		cggcggcggcggtggcgatgg	0.682000													3	4					0.004672	0.0047714	1	1	0
PITX2	5308	broad.mit.edu	37	4	111539828	111539828	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:111539828C>G	ENST00000354925.2	-	7	2112	c.407G>C	c.(406-408)cGt>cCt	p.R136P	PITX2_ENST00000394595.3_Silent_p.S67S|PITX2_ENST00000306732.3_Missense_Mutation_p.R143P|PITX2_ENST00000355080.5_Missense_Mutation_p.R90P|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394598.2_Missense_Mutation_p.R136P	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	136			R -> C (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTGGCCCGACGATTCTTGAA	0.582000													71	30					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205600	20205600	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:20205600A>G	ENST00000407540.3	-	2	757	c.695T>C	c.(694-696)aTg>aCg	p.M232T	MATN3_ENST00000421259.2_Missense_Mutation_p.M232T	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	232	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGCCATCATCTTGAGGGA	0.557000													4	12					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678912	138678912	+	Silent	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:138678912C>A	ENST00000520602.1	-	22	2538	c.2253G>T	c.(2251-2253)ctG>ctT	p.L751L	MCF2_ENST00000370578.4_Silent_p.L836L|MCF2_ENST00000370573.4_Silent_p.L691L|MCF2_ENST00000519895.1_Silent_p.L767L|MCF2_ENST00000338585.6_Silent_p.L707L|MCF2_ENST00000370576.4_Silent_p.L691L|MCF2_ENST00000536274.1_Silent_p.L652L|MCF2_ENST00000414978.1_Silent_p.L751L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	691	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCATCTTGCCCAGTTCATTTA	0.408000													18	57					7.45023e-12	8.72221e-12	1	1	0
CSAD	51380	broad.mit.edu	37	12	53553931	53553931	+	Missense_Mutation	SNP	C	C	T	rs34792176		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:53553931C>T	ENST00000267085.4	-	14	1453	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379846.1_Missense_Mutation_p.R233H|CSAD_ENST00000444623.1_Missense_Mutation_p.R380H|CSAD_ENST00000379843.3_Missense_Mutation_p.R233H|CSAD_ENST00000453446.2_Missense_Mutation_p.R380H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	380					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGGTCGATGCGCCGCTCCAG	0.657000											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	25					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703735	68703735	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:68703735G>T	ENST00000255078.3	+	13	1898	c.1787G>T	c.(1786-1788)aGg>aTg	p.R596M	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	596					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGACCGGAGGATCAACGTG	0.537000													71	603					2.73218e-42	3.64291e-42	1	1	0
ANKRD20A3	441425	broad.mit.edu	37	9	43133229	43133229	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:43133229C>T	ENST00000254835.2	-	1	315		c.e1+1			NM_001012419.1	NP_001012419.1	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3																		GCCCCCGCTACCTGTGCTGCT	0.751000													6	33					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956853	70956853	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:70956853C>G	ENST00000334414.6	-	16	3983	c.3939G>C	c.(3937-3939)gaG>gaC	p.E1313D	PTPRB_ENST00000550358.1_Missense_Mutation_p.E1225D|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1005D|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1312D|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1005D|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1095D|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1005D	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1095	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGTGGAGTTCTCTGTGATCC	0.567000													18	43					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52477677	52477677	+	Silent	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:52477677G>T	ENST00000216286.5	-	18	3638	c.3639C>A	c.(3637-3639)gcC>gcA	p.A1213A	NID2_ENST00000541773.1_Silent_p.A1112A	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1213						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CATCCAGCAGGGCGCTCTCTA	0.542000													8	66					1.33987e-11	1.55598e-11	1	1	0
TFB1M	51106	broad.mit.edu	37	6	155606317	155606317	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:155606317C>A	ENST00000367166.4	-	5	696	c.641G>T	c.(640-642)gGa>gTa	p.G214V		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAAAGCTTGTCCTGGAATCGT	0.443000													17	42					2.94398e-08	3.28631e-08	1	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117789462	117789462	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:117789462T>C	ENST00000528626.1	-	2	186	c.113A>G	c.(112-114)cAg>cGg	p.Q38R	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.Q38R|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.Q38R|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.Q38R|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.Q38R	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	38	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCCTGGGCTGGAGA	0.637000													4	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470323	179470323	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:179470323T>C	ENST00000589042.1	-	279	53923	c.53699A>G	c.(53698-53700)gAa>gGa	p.E17900G	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9027G|TTN_ENST00000591111.1_Missense_Mutation_p.E16259G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8835G|TTN_ENST00000359218.5_Missense_Mutation_p.E8960G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15332G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16259	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCCGTTTTTCAATGATATA	0.438000													17	132					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924319	70924319	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:70924319C>A	ENST00000603540.1	+	2	361	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.Q35K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	35					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGCCCTCCCAGCATTTCAC	0.557000													21	148					5.35356e-11	6.1673e-11	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318636	79318636	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:79318636C>A	ENST00000428286.1	-	9	8016	c.6816G>T	c.(6814-6816)caG>caT	p.Q2272H	PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q2631H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2631					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACATCCAACTCTGGTCTTGTG	0.502000													6	20					0.217242	0.217242	1	1	0
GLA	2717	broad.mit.edu	37	X	100656776	100656776	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:100656776G>T	ENST00000218516.3	-	3	412	c.391C>A	c.(391-393)Cta>Ata	p.L131I	GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	131			L -> P (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TAAATCCCTAGCTTCAGTCCT	0.478000													29	60					1.30897e-18	1.63906e-18	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24202490	24202490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr16:24202490G>A	ENST00000303531.7	+	16	1954	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PRKCB_ENST00000321728.7_Missense_Mutation_p.R601Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	601	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R601Q(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GCATTTTTCCGGTATATTGAT	0.463000													20	78					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841458	8841458	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841458C>G	ENST00000324060.2	+	1	143	c.68C>G	c.(67-69)tCa>tGa	p.S23*		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCAGGATCACGCCAGCTC	0.527000													8	95					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77835256	77835256	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:77835256G>C	ENST00000376156.3	-	3	182	c.179C>G	c.(178-180)aCt>aGt	p.T60S	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Missense_Mutation_p.T60S	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	60					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CCACTCTGAAGTTGCCTGTGA	0.348000													18	547					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55592028	55592028	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:55592028C>G	ENST00000288135.5	+	9	1449	c.1352C>G	c.(1351-1353)tCt>tGt	p.S451C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	451	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTAGATGCTCTGCTTCTGTA	0.398000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				31	3					0	0	1	0	0
NUDT3	11165	broad.mit.edu	37	6	34256561	34256561	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:34256561G>C	ENST00000607016.1	-	5	799	c.488C>G	c.(487-489)tCt>tGt	p.S163C	RP1-187N21.4_ENST00000605528.1_Missense_Mutation_p.S282C	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3											lung(2)	2						GCTCTGAGCAGAAACCGAGTA	0.478000													19	124					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158806	102158806	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:102158806G>A	ENST00000299314.7	-	13	2151	c.1889C>T	c.(1888-1890)aCa>aTa	p.T630I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	630					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CACCTCCACTGTTATCTGCAT	0.418000													20	51					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448000													4	47					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841900	8841900	+	Silent	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:8841900C>A	ENST00000324060.2	+	1	585	c.510C>A	c.(508-510)gcC>gcA	p.A170A		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTACTGTGCCTCCCGTATTG	0.577000													47	242					5.34276e-22	6.86926e-22	1	1	0
C9orf152	401546	broad.mit.edu	37	9	112963752	112963752	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:112963752C>T	ENST00000400613.4	-	2	805	c.196G>A	c.(196-198)Gga>Aga	p.G66R	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	66										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGTGTGTTTCCTCCTGAAAAG	0.522000													11	22					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754879	54754879	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:54754879T>G	ENST00000450632.1	-	13	1833	c.1756A>C	c.(1756-1758)Act>Cct	p.T586P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	392					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTCTCTCAGTGTCCATCTGT	0.602000													3	22					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081032	143081032	+	Silent	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:143081032A>G	ENST00000367603.2	-	9	7135	c.6393T>C	c.(6391-6393)ccT>ccC	p.P2131P	HIVEP2_ENST00000367604.1_Silent_p.P2131P|HIVEP2_ENST00000012134.2_Silent_p.P2131P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2131	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTCTCTTCTAGGAGAGAGGT	0.473000													11	35					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714275	70714275	+	RNA	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:70714275G>T	ENST00000530196.1	-	0	243					NR_003951.1																						GTGAAATGCTGGGAGGGCCCA	0.547000													5	99					0.0293803	0.0295858	1	1	0
HSPB7	27129	broad.mit.edu	37	1	16343648	16343648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:16343648G>A	ENST00000311890.9	-	2	1080	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HSPB7_ENST00000375718.4_Missense_Mutation_p.A160V|HSPB7_ENST00000411503.1_Missense_Mutation_p.A85V|HSPB7_ENST00000487046.1_Missense_Mutation_p.A90V|HSPB7_ENST00000406363.2_Missense_Mutation_p.A89V	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	85					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCCACCGCAAACTCATA	0.607000													5	320					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954677	70954677	+	Silent	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:70954677C>T	ENST00000334414.6	-	17	4250	c.4206G>A	c.(4204-4206)cgG>cgA	p.R1402R	PTPRB_ENST00000550358.1_Silent_p.R1314R|PTPRB_ENST00000550857.1_Silent_p.R1094R|PTPRB_ENST00000551525.1_Silent_p.R1401R|PTPRB_ENST00000538708.1_Silent_p.R1094R|PTPRB_ENST00000261266.5_Silent_p.R1184R|PTPRB_ENST00000451516.2_Silent_p.R1094R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1184	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTGTCGTGTTCCGATTGGACC	0.458000													81	197					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70613284	70613284	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:70613284G>A	ENST00000449580.1	+	21	3233	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	TAF1_ENST00000276072.3_Missense_Mutation_p.R1082H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1061H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1082H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1061					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAAGAGCGTTACAAAGAG	0.507000													12	53					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227383	42227383	+	Silent	SNP	G	G	T	rs142184147		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:42227383G>T	ENST00000541110.1	-	9	2591	c.2023C>A	c.(2023-2025)Cgg>Agg	p.R675R	TRERF1_ENST00000372917.4_Silent_p.R572R|TRERF1_ENST00000372922.4_Silent_p.R655R|TRERF1_ENST00000354325.2_Silent_p.R572R|TRERF1_ENST00000340840.2_Silent_p.R572R			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	655	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCGGTGCCGGAACTTTTTC	0.627000													18	150					5.3912e-06	5.92621e-06	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38593010	38593010	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:38593010G>A	ENST00000413689.1	-	28	5046	c.4853C>T	c.(4852-4854)tCc>tTc	p.S1618F	SCN5A_ENST00000455624.2_Missense_Mutation_p.S1585F|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1618F|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1564F|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1564F|SCN5A_ENST00000414099.2_Missense_Mutation_p.S1600F|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1617F|SCN5A_ENST00000425664.1_Missense_Mutation_p.S1600F|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1564F|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1617F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1618					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGCGTCGGGGAGAAGAAGTA	0.592000													44	90					0	0	1	0	0
NUDT3	11165	broad.mit.edu	37	6	34256606	34256606	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:34256606G>C	ENST00000607016.1	-	5	754	c.443C>G	c.(442-444)tCa>tGa	p.S148*	RP1-187N21.4_ENST00000605528.1_Nonsense_Mutation_p.S267*	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3											lung(2)	2						ATTGTTGGCTGAGTAGCCTTG	0.468000													15	101					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081031	143081031	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:143081031T>A	ENST00000367603.2	-	9	7136	c.6394A>T	c.(6394-6396)Aga>Tga	p.R2132*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.R2132*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.R2132*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2132	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCTCTCTTCTAGGAGAGAGG	0.468000													11	36					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925597	67925597	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:67925597T>A	ENST00000304363.4	-	11	2569	c.2216A>T	c.(2215-2217)aAc>aTc	p.N739I		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGGAAGAGTTCATTCCATC	0.378000													25	385					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772365	58772365	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:58772365G>T	ENST00000269829.4	+	7	867	c.393G>T	c.(391-393)caG>caT	p.Q131H	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q103H|ZNF544_ENST00000596652.1_Missense_Mutation_p.Q131H|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q103H|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q103H|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAACCAGTTAAGGGAAC	0.502000													15	48					3.35478e-16	4.16455e-16	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88679759	88679759	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:88679759C>T	ENST00000394480.1	-	8	1025	c.704G>A	c.(703-705)gGa>gAa	p.G235E	NTRK3_ENST00000317501.3_Missense_Mutation_p.G235E|NTRK3_ENST00000558676.1_Missense_Mutation_p.G235E|NTRK3_ENST00000355254.2_Missense_Mutation_p.G235E|NTRK3_ENST00000540489.2_Missense_Mutation_p.G235E|NTRK3_ENST00000360948.2_Missense_Mutation_p.G235E|NTRK3_ENST00000557856.1_Missense_Mutation_p.G235E|NTRK3_ENST00000542733.2_Missense_Mutation_p.G137E|NTRK3_ENST00000357724.2_Missense_Mutation_p.G235E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	235	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGGGTGATCCAGAGCCATT	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	19					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	C	A	rs121913413		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:41266125C>A	ENST00000349496.5	+	3	402	c.122C>A	c.(121-123)aCc>aAc	p.T41N	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGTGCCACTACCACAGCTCCT	0.507000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				14	39					4.93089e-13	5.91707e-13	1	1	0
DPP6	1804	broad.mit.edu	37	7	154684072	154684072	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:154684072C>T	ENST00000404039.1	+	26	2875	c.2288C>T	c.(2287-2289)aCc>aTc	p.T763I	DPP6_ENST00000332007.3_Missense_Mutation_p.T765I|DPP6_ENST00000427557.1_Missense_Mutation_p.T720I|DPP6_ENST00000377770.3_Missense_Mutation_p.T827I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	827					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATTACTTTACCAGCTCCAGC	0.522000													15	46					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998583	144998583	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr8:144998583C>G	ENST00000322810.4	-	31	6094	c.5925G>C	c.(5923-5925)aaG>aaC	p.K1975N	PLEC_ENST00000357649.2_Missense_Mutation_p.K1842N|PLEC_ENST00000356346.3_Missense_Mutation_p.K1824N|PLEC_ENST00000527096.1_Missense_Mutation_p.K1861N|PLEC_ENST00000398774.2_Missense_Mutation_p.K1806N|PLEC_ENST00000436759.2_Missense_Mutation_p.K1865N|PLEC_ENST00000354589.3_Missense_Mutation_p.K1838N|PLEC_ENST00000354958.2_Missense_Mutation_p.K1816N|PLEC_ENST00000345136.3_Missense_Mutation_p.K1838N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1975	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGCGGCCAGCTTCTCCGCAA	0.746000													9	21					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72936747	72936747	+	Silent	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:72936747G>A	ENST00000553530.1	+	8	699	c.492G>A	c.(490-492)gcG>gcA	p.A164A	RGS6_ENST00000402788.2_Silent_p.A164A|RGS6_ENST00000553525.1_Silent_p.A164A|RGS6_ENST00000343854.6_Silent_p.A164A|RGS6_ENST00000406236.4_Silent_p.A164A|RGS6_ENST00000555571.1_Silent_p.A164A|RGS6_ENST00000404301.2_Silent_p.A164A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000554782.1_Silent_p.A25A|RGS6_ENST00000355512.6_Silent_p.A164A|RGS6_ENST00000407322.4_Silent_p.A164A|RGS6_ENST00000556437.1_Silent_p.A164A|RGS6_ENST00000434263.2_Silent_p.A95A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	164					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGGCCTTTGCGAGGAAGTGGG	0.403000													15	65					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140170	50140170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:50140170G>A	ENST00000371564.3	-	2	829	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q184*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.Q204*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	204	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTTGAAACTGCGGACACAGG	0.612000													70	123					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17165594	17165594	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chrX:17165594C>G	ENST00000357277.3	+	18	2144	c.1973C>G	c.(1972-1974)aCt>aGt	p.T658S	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.T657S|REPS2_ENST00000380064.4_Missense_Mutation_p.T457S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	658	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CGTCCGGTCACTGTGTTGTGA	0.423000													53	159					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586172	54586172	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:54586172C>A	ENST00000545554.1	+	10	3898	c.3898C>A	c.(3898-3900)Cat>Aat	p.H1300N	UNC13C_ENST00000260323.11_Missense_Mutation_p.H1300N|UNC13C_ENST00000537900.1_Missense_Mutation_p.H1298N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1300	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTCAAGCAACATTTCAAAAA	0.368000													27	56					2.44723e-14	2.98645e-14	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73161465	73161465	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:73161465C>A	ENST00000286657.4	-	19	2665	c.2629G>T	c.(2629-2631)Gat>Tat	p.D877Y		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	877	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTATTATCACTTTTCCTA	0.378000													57	12					2.40265e-35	3.17414e-35	1	1	0
MARK3	4140	broad.mit.edu	37	14	103941514	103941514	+	Silent	SNP	T	T	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:103941514T>C	ENST00000429436.2	+	13	1959	c.1449T>C	c.(1447-1449)atT>atC	p.I483I	MARK3_ENST00000416682.2_Silent_p.I506I|MARK3_ENST00000335102.5_Silent_p.I506I|MARK3_ENST00000303622.9_Silent_p.I483I|MARK3_ENST00000216288.7_Silent_p.I467I|MARK3_ENST00000440884.3_Silent_p.I404I|MARK3_ENST00000553942.1_Silent_p.I483I|MARK3_ENST00000561071.1_Intron	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	483							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGGCGGATATTCCTGAACGCA	0.488000													7	39					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43542949	43542949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:43542949C>T	ENST00000400427.1	+	16	3400	c.3004C>T	c.(3004-3006)Cct>Tct	p.P1002S	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1074S|UMODL1_ENST00000408910.2_Missense_Mutation_p.P946S|UMODL1_ENST00000400424.1_Missense_Mutation_p.P874S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	946	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGTGACTCTCCTGGCAATGA	0.617000													9	30					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954675	70954675	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:70954675T>G	ENST00000334414.6	-	17	4252	c.4208A>C	c.(4207-4209)aAc>aCc	p.N1403T	PTPRB_ENST00000550358.1_Missense_Mutation_p.N1315T|PTPRB_ENST00000550857.1_Missense_Mutation_p.N1095T|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1402T|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1095T|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1185T|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1095T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1185	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCTGTCGTGTTCCGATTGGA	0.453000													80	195					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150852	173150852	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr4:173150852G>A	ENST00000506823.1	+	3	841	c.184G>A	c.(184-186)Gat>Aat	p.D62N	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D45N	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	62						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCATGGACAGATGGTTTGAG	0.433000													7	53					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117076907	117076907	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr11:117076907A>T	ENST00000320934.3	-	17	2794	c.2164T>A	c.(2164-2166)Tca>Aca	p.S722T	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	722					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGTGGCACTGATTCTAGCTCT	0.587000			T	IGH@	MLCLS								7	42					0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861655	34861655	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr21:34861655G>T	ENST00000314399.3	-	2	484	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	DNAJC28_ENST00000402202.1_Missense_Mutation_p.L16M|DNAJC28_ENST00000381947.3_Missense_Mutation_p.L16M	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	16							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GCCTTTATCAGGTGAGATCTT	0.343000													12	63					2.31682e-05	2.47128e-05	1	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24524121	24524121	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr20:24524121G>T	ENST00000376862.3	+	2	1021	c.388G>T	c.(388-390)Gat>Tat	p.D130Y		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	130					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGAGTACCCGGATGGGAAGTT	0.612000													61	47					4.09106e-26	5.30733e-26	1	1	0
CMPK2	129607	broad.mit.edu	37	2	6990085	6990085	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:6990085G>A	ENST00000256722.5	-	5	1245	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	416					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCCATCCGCTGGTAGGAC	0.453000													11	77					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	49					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712413	247712413	+	Silent	SNP	A	A	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:247712413A>C	ENST00000366490.3	+	4	440	c.282A>C	c.(280-282)gcA>gcC	p.A94A	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000531662.1_3'UTR					germinal center-associated, signaling and motility-like																		TGCCTCATGCATTTTCCTCTT	0.532000													4	28					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664094	39664094	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr2:39664094G>C	ENST00000263881.3	-	1	359	c.35C>G	c.(34-36)cCg>cGg	p.P12R	MAP4K3_ENST00000341681.5_Missense_Mutation_p.P12R|AC007246.3_ENST00000426083.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	12					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTCCTCCTGCGGGTTCCGGCG	0.726000													9	19					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829394	146829394	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:146829394A>G	ENST00000361727.3	+	8	1657	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	381					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTCAACGCTACAAGTTACCT	0.463000										HNSCC(39;0.1)			19	55					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074615	143074615	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr6:143074615C>T	ENST00000367603.2	-	10	7712	c.6970G>A	c.(6970-6972)Gaa>Aaa	p.E2324K	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Missense_Mutation_p.E2324K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2324K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGTATATTTTCCTCCTGTTCC	0.567000													23	27					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2																						CAAAAACAAAACCCTAGATATT	0.421													2	4	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	3	---	---	---	---					
CCT6A	908	broad.mit.edu	37	7	56128613	56128614	+	Frame_Shift_Ins	INS	-	-	CATT			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr7:56128613_56128614insCATT	ENST00000275603.4	+	11	1546_1547	c.1327_1328insCATT	c.(1327-1329)attfs	p.I443fs	CCT6A_ENST00000335503.3_Frame_Shift_Ins_p.I398fs|CCT6A_ENST00000540286.1_Frame_Shift_Ins_p.I412fs|CCT6A_ENST00000462133.1_3'UTR	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	443					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGCTGATGCATTGCTCATT	0.441													7	20	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732474	732475	+	In_Frame_Ins	INS	-	-	GAG	rs113586916		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:732474_732475insGAG	ENST00000382303.1	+	10	3754_3755	c.3102_3103insGAG	c.(3100-3105)gaagga>gaGAGagga	p.1034_1035EG>ERG	KANK1_ENST00000382293.3_In_Frame_Ins_p.876_877EG>ERG|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Ins_p.1034_1035EG>ERG	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1034					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTTGAAGAAGAGGAGGAGGA	0.460													18	96	---	---	---	---					
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acfs	p.TN352fs	TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				9	27	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)tag>tTGGAGGTGGCAGCGGCTTag	p.107_108insLEVAAA		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	107	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													5	9	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													4	9	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958416	84958427	+	RNA	DEL	GAGGACATTGGT	GAGGACATTGGT	-			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr15:84958416_84958427delGAGGACATTGGT	ENST00000558801.1	-	0	6302_6313																											CGGGCACCACGAGGACATTGGTGAGGACAGGC	0.557													5	4	---	---	---	---					
ZNF208	7757	broad.mit.edu	37	19	22154697	22154697	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A5SH-06A-11D-A30X-08	TCGA-EB-A5SH-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ec7b46-1897-4cf7-8c8f-390050cf0c99	def31e16-a76a-47f8-83bd-fe72c550d221	g.chr19:22154697delG	ENST00000397126.4	-	4	3287	c.3139delC	c.(3139-3141)atfs	p.H1047fs	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTGCCTTATGTTCAGTAAGG	0.438													35	53	---	---	---	---