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
ZBTB41	360023	broad.mit.edu	37	1	197169565	197169565	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:197169565C>G	ENST00000367405.4	-	1	107	c.39G>C	c.(37-39)aaG>aaC	p.K13N	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTAGATGGATCTTCTCAAGAT	0.378000													7	99					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21712055	21712055	+	Silent	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:21712055T>A	ENST00000261195.2	-	10	1532	c.1278A>T	c.(1276-1278)acA>acT	p.T426T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	426					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTTCATAATTGTTAGATCAT	0.308000													7	21					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3362107	3362107	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:3362107C>A	ENST00000252032.9	-	3	269	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	68										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATAATTTGCCAGCTCTCTG	0.398000													6	56					0.0293803	0.0303436	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26286748	26286748	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr22:26286748C>T	ENST00000335473.7	+	26	4590	c.4340C>T	c.(4339-4341)gCc>gTc	p.A1447V	CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1448V|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1447V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1447	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTGACCTTGCCGATGAGCGC	0.592000													3	45					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101200713	101200713	+	RNA	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:101200713T>A	ENST00000313669.7	+	0	1418				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		AACCTCAAGATGAAGAGGGGT	0.647000													11	23					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4935969	4935969	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:4935969T>C	ENST00000322013.3	-	1	953	c.925A>G	c.(925-927)Acg>Gcg	p.T309A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGCATGCGTCACTCGATCC	0.443000													5	31					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6068591	6068591	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:6068591T>C	ENST00000199389.6	-	12	1551	c.1405A>G	c.(1405-1407)Atc>Gtc	p.I469V	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I345V	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	469	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCTGTAGGATGTCTGTGCAG	0.398000													11	51					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568335	223568335	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:223568335G>A	ENST00000366875.3	+	1	1621	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	506										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAAGAATTCTGGTGGAGCTGG	0.602000													7	82					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150085	20150085	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:20150085C>A	ENST00000245957.5	+	13	1442	c.1366C>A	c.(1366-1368)Cac>Aac	p.H456N	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.H456N|C20orf26_ENST00000451767.2_Missense_Mutation_p.H456N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	456										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTACGTCTTCCACCGGGCTGG	0.493000													9	92					3.09899e-07	3.54975e-07	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113353354	113353354	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:113353354G>T	ENST00000458497.1	+	11	2930	c.2651G>T	c.(2650-2652)aGg>aTg	p.R884M	ALPK1_ENST00000177648.9_Missense_Mutation_p.R884M|ALPK1_ENST00000504176.2_Missense_Mutation_p.R806M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	884							ATP binding|protein serine/threonine kinase activity	p.R884M(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTGGTCAGAGGGCGGAGACC	0.562000													23	85					3.6726e-16	5.17037e-16	1	1	0
FUT8	2530	broad.mit.edu	37	14	66096222	66096222	+	Silent	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:66096222G>T	ENST00000360689.5	+	6	2222	c.495G>T	c.(493-495)acG>acT	p.T165T	FUT8_ENST00000394585.1_Silent_p.T165T|FUT8_ENST00000358307.2_Silent_p.T36T|FUT8_ENST00000557164.1_Silent_p.T2T|FUT8_ENST00000394586.2_Silent_p.T165T	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	165					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTATAATGACGGATCTATACT	0.423000													26	84					4.59853e-10	5.85267e-10	1	1	0
ADCY8	114	broad.mit.edu	37	8	131793006	131793006	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:131793006C>T	ENST00000286355.5	-	18	5478	c.3386G>A	c.(3385-3387)cGg>cAg	p.R1129Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R998Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GACTTGGATCCGGCCACTAAC	0.527000										HNSCC(32;0.087)			17	164					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													3	30					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627589	21627589	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:21627589G>A	ENST00000425654.2	+	19	2936	c.2456G>A	c.(2455-2457)cGa>cAa	p.R819Q	CNKSR2_ENST00000279451.4_Missense_Mutation_p.R849Q|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R800Q|CNKSR2_ENST00000379510.3_Missense_Mutation_p.R849Q	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	849					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACTCTGCCTCGAGATAGCGGG	0.542000													13	41					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106603920	106603920	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:106603920C>A	ENST00000451321.2	-	7	1838	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	INTS12_ENST00000394735.1_Missense_Mutation_p.K453N|INTS12_ENST00000340139.5_Missense_Mutation_p.K453N	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	453					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GGGCAGCTTTCTTCTTGACCA	0.393000													18	197					1.67942e-08	2.07457e-08	1	1	0
DDR2	4921	broad.mit.edu	37	1	162743265	162743265	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:162743265C>T	ENST00000367922.2	+	15	2173	c.1735C>T	c.(1735-1737)Ctc>Ttc	p.L579F	DDR2_ENST00000367921.3_Missense_Mutation_p.L579F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	579	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTAGGTTCATCTCTGTGAAGT	0.443000													24	97					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803401	142803401	+	RNA	SNP	C	C	A	rs1920860	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:142803401C>A	ENST00000423385.1	-	0	1564																											ctgagctcctcaagtgatcct	0.368000													4	25					0.184627	0.186104	1	1	0
FANCM	57697	broad.mit.edu	37	14	45605533	45605533	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:45605533G>T	ENST00000267430.5	+	1	384	c.299G>T	c.(298-300)cGg>cTg	p.R100L	FANCM_ENST00000556036.1_Missense_Mutation_p.R100L|FANCM_ENST00000542564.2_Missense_Mutation_p.R100L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	100	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CACATTTCCCGGGCTGCTCTG	0.562000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	68					9.04412e-07	1.02663e-06	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918654	51918654	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:51918654G>T	ENST00000353836.5	-	7	1332	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.L223M|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L313M|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L313M|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L371M|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.L288M|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L323M|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.L281M|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L371M	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	371	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGCCCTCCAGTACTGGGAGA	0.637000													28	41					2.41591e-17	3.49891e-17	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145101765	145101765	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:145101765G>A	ENST00000377470.3	+	5	1786	c.1684G>A	c.(1684-1686)Gtg>Atg	p.V562M	SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	562										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGGAGACCGTGCACCCCGG	0.677000													20	86					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101879140	101879140	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:101879140G>C	ENST00000289382.3	+	3	982	c.819G>C	c.(817-819)aaG>aaC	p.K273N		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GCGGACCAAAGCCACCTATTG	0.398000													22	49					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11420538	11420538	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:11420538G>T	ENST00000259089.4	+	12	1823	c.1231G>T	c.(1231-1233)Gtc>Ttc	p.V411F	BLK_ENST00000529894.1_Missense_Mutation_p.V340F	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	411	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCACTTCGGGGTCTTCACCAT	0.602000													9	37					0.0477658	0.0489308	1	1	0
PIGK	10026	broad.mit.edu	37	1	77627083	77627083	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:77627083G>C	ENST00000370812.3	-	8	733	c.710C>G	c.(709-711)cCt>cGt	p.P237R	PIGK_ENST00000445065.1_Missense_Mutation_p.P143R|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.P161R|PIGK_ENST00000359130.1_Missense_Mutation_p.P237R	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	237					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGCAGGATCAGGTTGATGCTA	0.313000													14	35					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42259611	42259611	+	Splice_Site	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:42259611G>A	ENST00000199764.6	+	1	282		c.e1+1		CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)						cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTGCTCACAGGTGAGGGGAGG	0.607000													6	108					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300291	10300291	+	Silent	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:10300291G>T	ENST00000403437.2	-	31	4285	c.4191C>A	c.(4189-4191)gcC>gcA	p.A1397A	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1397					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAGGCGCTGGGCCAACTTTT	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	44					1.15088e-07	1.3365e-07	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47566300	47566300	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:47566300C>A	ENST00000426342.1	-	6	804	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	MDGA2_ENST00000399232.2_Missense_Mutation_p.D318Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.D20Y|MDGA2_ENST00000439988.2_Missense_Mutation_p.D249Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	249				SGQGVY -> EHLVIQ (in Ref. 2).	spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATAGGATCATCCACCAAGAGT	0.413000													24	88					5.45024e-15	7.58818e-15	1	1	0
TACC2	10579	broad.mit.edu	37	10	123845735	123845735	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:123845735C>A	ENST00000369005.1	+	4	4060	c.3720C>A	c.(3718-3720)gtC>gtA	p.V1240V	TACC2_ENST00000334433.3_Silent_p.V1240V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1240V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.V1240V|TACC2_ENST00000453444.2_Silent_p.V1240V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1240						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCTGCATGTCGACAGTGCTG	0.587000													16	122					0.0332995	0.0342509	1	1	0
REXO4	57109	broad.mit.edu	37	9	136279795	136279795	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:136279795G>C	ENST00000371942.3	-	2	761	c.562C>G	c.(562-564)Cca>Gca	p.P188A	REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Silent_p.P128P	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	188						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TCGGTGGGTGGGGCTGGGGCT	0.552000													11	92					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184947222	184947222	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:184947222G>A	ENST00000231887.3	-	4	536	c.461C>T	c.(460-462)tCa>tTa	p.S154L	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.S58L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	154	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ATACTGACCTGAGGTAATTAA	0.468000													4	34					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29689187	29689187	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:29689187C>A	ENST00000256062.5	-	11	1889	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.E642D|TMTC1_ENST00000552618.1_Missense_Mutation_p.E604D|TMTC1_ENST00000539277.1_Missense_Mutation_p.E580D|TMTC1_ENST00000381224.2_Missense_Mutation_p.E534D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	580						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CATCTGCAAACTCTGGACCAT	0.368000													16	103					3.52763e-06	3.96859e-06	1	1	0
OMD	4958	broad.mit.edu	37	9	95179071	95179071	+	Missense_Mutation	SNP	G	G	A	rs34607425	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:95179071G>A	ENST00000375550.4	-	2	1045	c.770C>T	c.(769-771)cCa>cTa	p.P257L	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	257					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ATGAAGTTTTGGAAGTTTGTC	0.333000			T	USP6	aneurysmal bone cysts								3	41					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677945	38677945	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:38677945A>G	ENST00000379931.3	+	3	1562	c.1183A>G	c.(1183-1185)Aac>Gac	p.N395D	TACC1_ENST00000520615.1_Missense_Mutation_p.N200D|TACC1_ENST00000520973.1_Missense_Mutation_p.N200D|TACC1_ENST00000519416.1_Missense_Mutation_p.N200D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.N350D|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.N395D|TACC1_ENST00000520340.1_Missense_Mutation_p.N359D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.N411D			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	395	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCCCAGCTTCAACCCCTTTGG	0.547000													30	189					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100610	39100610	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:39100610T>C	ENST00000591517.1	-	12	894	c.866A>G	c.(865-867)gAc>gGc	p.D289G	MAP4K1_ENST00000586296.1_Missense_Mutation_p.D289G|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D289G|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D285G|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	289					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTTCAGTTTGTCAAGAAGATC	0.577000													13	78					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276880	95276880	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:95276880G>C	ENST00000371485.3	+	6	1172	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	290					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAGAAGGGCAGATGTGCAACA	0.358000													16	82					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607376	21607376	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:21607376A>T	ENST00000392288.2	+	4	2024	c.1915A>T	c.(1915-1917)Aag>Tag	p.K639*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Nonsense_Mutation_p.K511*	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CAAAGCTTTTAAGCGGTCCTC	0.388000													7	44					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811181	5811181	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:5811181G>A	ENST00000381095.3	-	6	2755	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	NLGN4X_ENST00000275857.6_Missense_Mutation_p.R710C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R710C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R710C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R730C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	710					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGACTGGGGCGCCTGTGAGTC	0.532000													9	37					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097000	167097000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:167097000G>T	ENST00000361200.2	+	6	2798	c.2632G>T	c.(2632-2634)Gag>Tag	p.E878*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E878*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E878*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	878					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAAGGAAGATGAGGATGATGG	0.488000													14	66					6.53275e-17	9.35371e-17	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936000	94936000	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:94936000C>G	ENST00000337425.5	-	2	306	c.232G>C	c.(232-234)Gtt>Ctt	p.V78L	SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000380365.3_Missense_Mutation_p.V60L|SERPINA9_ENST00000298845.7_Missense_Mutation_p.V78L|SERPINA9_ENST00000546329.1_Missense_Mutation_p.V42L|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	60					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTCTCCAAAACCAGCCTGCGG	0.592000													24	53					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101742056	101742056	+	Silent	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr13:101742056G>T	ENST00000251127.6	-	30	3528	c.3447C>A	c.(3445-3447)acC>acA	p.T1149T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1149						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAACAAAAAGGGTCAGTCCAA	0.353000													28	85					1.77063e-15	2.47888e-15	1	1	0
POLN	353497	broad.mit.edu	37	4	2097595	2097595	+	Missense_Mutation	SNP	G	G	A	rs150460252	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:2097595G>A	ENST00000511885.2	-	20	2401	c.2048C>T	c.(2047-2049)gCg>gTg	p.A683V	POLN_ENST00000382865.1_Missense_Mutation_p.A683V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	683					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATAGACCACCGCGTACACCAC	0.577000								DNA polymerases (catalytic subunits)					22	59					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267668	10267668	+	Silent	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:10267668G>C	ENST00000418404.3	-	2	343	c.180C>G	c.(178-180)gtC>gtG	p.V60V	MYH13_ENST00000570743.1_Silent_p.V60V|MYH13_ENST00000252172.4_Silent_p.V60V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	60	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTGACTATGACTTTGTCAT	0.393000													9	22					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88338056	88338056	+	Silent	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:88338056G>C	ENST00000418177.2	-	5	1591	c.1224C>G	c.(1222-1224)gcC>gcG	p.A408A	GRM5_ENST00000393297.1_Silent_p.A408A|GRM5_ENST00000305447.4_Silent_p.A408A|GRM5_ENST00000305432.5_Silent_p.A408A|GRM5_ENST00000455756.2_Silent_p.A408A			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	408					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A408A(4)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGAGCCCATAGGCCATCGAAT	0.463000													12	85					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11162519	11162519	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:11162519G>T	ENST00000221086.3	+	4	1060	c.587G>T	c.(586-588)gGg>gTg	p.G196V	MTMR9_ENST00000526292.1_Missense_Mutation_p.G111V	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	196	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAAAAAAATGGGATGGTAAGT	0.453000													29	70					1.5548e-18	2.27796e-18	1	1	0
LEFTY1	10637	broad.mit.edu	37	1	226076619	226076619	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:226076619C>T	ENST00000272134.5	-	1	227	c.148G>A	c.(148-150)Gag>Aag	p.E50K	LEFTY1_ENST00000492457.1_Intron|RP4-559A3.7_ENST00000432920.2_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	50					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					ATGACCAGCTCCTCCATGTCG	0.711000													4	29					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591151	56591151	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:56591151C>T	ENST00000338222.5	+	1	1126	c.845C>T	c.(844-846)gCc>gTc	p.A282V		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	282						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGCTGAATGCCGCACAAGAG	0.517000													3	38					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18837139	18837139	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:18837139C>A	ENST00000377304.4	-	10	1517	c.1099G>T	c.(1099-1101)Gtg>Ttg	p.V367L	NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	367							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TAAACCAGCACACCCTCTGGC	0.468000													7	28					0.00198382	0.00211831	1	1	0
KIFAP3	22920	broad.mit.edu	37	1	170004651	170004651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:170004651C>T	ENST00000367765.1	-	6	1942	c.441G>A	c.(439-441)tgG>tgA	p.W147*	KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.W109*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.W143*|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.W187*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	187					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTTGCTTCCAGTCTTCTC	0.368000													8	44					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78515899	78515899	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:78515899C>A	ENST00000397909.2	+	16	4102	c.3929C>A	c.(3928-3930)cCt>cAt	p.P1310H	NAV3_ENST00000228327.6_Missense_Mutation_p.P1310H|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.P1310H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1310	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCAGCAGCCCTCTCTTCAAT	0.552000										HNSCC(70;0.22)			14	54					1.5842e-08	1.96659e-08	1	1	0
PPP2R5D	5528	broad.mit.edu	37	6	42978258	42978258	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr6:42978258C>G	ENST00000485511.1	+	13	1611	c.1432C>G	c.(1432-1434)Cag>Gag	p.Q478E	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.Q446E|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.Q470E|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.Q372E	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	478					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAAATGAATCAGAAGCTGTT	0.473000													11	135					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655534	19655534	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:19655534T>A	ENST00000586018.1	+	8	2300	c.2198T>A	c.(2197-2199)tTc>tAc	p.F733Y	CILP2_ENST00000291495.4_Missense_Mutation_p.F727Y			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	727						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGCGCCTGTTCAATCTGGAC	0.711000													8	19					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31785031	31785031	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:31785031A>G	ENST00000395934.2	+	11	1512	c.1505A>G	c.(1504-1506)gAa>gGa	p.E502G	ELP4_ENST00000350638.5_Intron|ELP4_ENST00000379163.5_Missense_Mutation_p.K407E|Z83001.1_ENST00000429821.1_RNA|Z83001.1_ENST00000434742.1_RNA|Z83001.1_ENST00000454509.1_RNA			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ACTCAAGCAGAAAGACTCTGC	0.433000													36	72					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151917607	151917607	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr6:151917607C>A	ENST00000367290.5	+	9	1694	c.1605C>A	c.(1603-1605)atC>atA	p.I535I	CCDC170_ENST00000239374.7_Silent_p.I535I			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	535																	ATCTTACCATCAGGAACTTGC	0.557000													18	39					5.03518e-11	6.47381e-11	1	1	0
KCNB1	3745	broad.mit.edu	37	20	47990088	47990088	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:47990088C>A	ENST00000371741.4	-	2	2175	c.2009G>T	c.(2008-2010)cGa>cTa	p.R670L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	670					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTAAGTGCTCGGAGCTTCAA	0.552000													19	37					2.94398e-08	3.56675e-08	1	1	0
GART	2618	broad.mit.edu	37	21	34907024	34907024	+	Missense_Mutation	SNP	A	A	T	rs138272749	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr21:34907024A>T	ENST00000381831.3	-	4	540	c.277T>A	c.(277-279)Tgc>Agc	p.C93S	GART_ENST00000361093.5_Missense_Mutation_p.C93S|GART_ENST00000381839.3_Missense_Mutation_p.C93S|GART_ENST00000381815.4_Missense_Mutation_p.C93S	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	93					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GGGCCAAAGCATTGCACTCCT	0.507000													4	71					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92737073	92737073	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:92737073T>A	ENST00000370360.3	-	8	953	c.872A>T	c.(871-873)tAt>tTt	p.Y291F	GLMN_ENST00000534881.1_Missense_Mutation_p.Y291F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	291					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		AAATACTAGATATGCCAGAGA	0.328000									Multiple Glomus Tumors (of the Skin), Familial				25	76					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4497156	4497156	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:4497156G>T	ENST00000389313.4	+	4	837	c.770G>T	c.(769-771)gGc>gTc	p.G257V	SMTNL2_ENST00000338859.4_Missense_Mutation_p.G113V	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	257										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCAAGCTCTGGCTATGGGGCA	0.582000													19	72					4.96729e-08	5.96075e-08	1	1	0
PASD1	139135	broad.mit.edu	37	X	150840876	150840876	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:150840876G>T	ENST00000370357.4	+	14	1904	c.1659G>T	c.(1657-1659)atG>atT	p.M553I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	553						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					aggggcagatgctacagaaag	0.542000													9	14					3.09899e-07	3.54975e-07	1	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630489	131630489	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:131630489C>T	ENST00000200652.3	+	1	354	c.180C>T	c.(178-180)agC>agT	p.S60S	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	60					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ACCTGAGCAGCGCCTGGCGCA	0.682000													5	34					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78592424	78592424	+	Silent	SNP	A	A	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:78592424A>G	ENST00000397909.2	+	36	6659	c.6486A>G	c.(6484-6486)tcA>tcG	p.S2162S	NAV3_ENST00000228327.6_Silent_p.S2140S|NAV3_ENST00000266692.7_Silent_p.S1963S|NAV3_ENST00000536525.2_Silent_p.S2140S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2162						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGTTTCTTCATCACCAAATC	0.328000										HNSCC(70;0.22)			6	61					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103857	53103857	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:53103857G>T	ENST00000408890.4	+	1	509	c.493G>T	c.(493-495)Gcc>Tcc	p.A165S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	165										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						aggccgccccgccgcccAGGA	0.721000													6	26					0.00198382	0.00211831	1	1	0
TSHB	7252	broad.mit.edu	37	1	115576635	115576635	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:115576635C>A	ENST00000256592.1	+	3	272	c.204C>A	c.(202-204)tcC>tcA	p.S68S	TSHB_ENST00000369517.1_Silent_p.S68S	NM_000549.3|NM_001277991.1	NP_000540.2|NP_001264920.1	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	68					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ATGCTCTGTCCCAGGATGTTT	0.403000													43	206					2.35958e-20	3.56057e-20	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1803704	1803704	+	Silent	SNP	T	T	C	rs2234909	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:1803704T>C	ENST00000340107.4	+	7	1138	c.882T>C	c.(880-882)aaT>aaC	p.N294N	FGFR3_ENST00000440486.2_Silent_p.N294N|FGFR3_ENST00000412135.2_Silent_p.N294N|FGFR3_ENST00000352904.1_Silent_p.N294N|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Silent_p.N294N|FGFR3_ENST00000260795.2_Silent_p.N294N	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	294	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.N294N(5)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGGAGGTGAATGGCAGCAAGG	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				3	29					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510306	9510306	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:9510306G>A	ENST00000246070.2	+	6	1174	c.682G>A	c.(682-684)Gat>Aat	p.D228N	LAMP5_ENST00000427562.2_Missense_Mutation_p.D184N	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	228						integral to membrane											ATGCCCAGTGGATGAGCGGGA	0.468000													5	58					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547550	228547550	+	Silent	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:228547550G>C	ENST00000284548.11	+	81	19031	c.18957G>C	c.(18955-18957)tcG>tcC	p.S6319S	OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.S3438S|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7145					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGACTCTCGGGGCCCCAGC	0.672000													4	10					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32492919	32492919	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr21:32492919C>A	ENST00000286827.3	-	29	5014	c.4543G>T	c.(4543-4545)Gtg>Ttg	p.V1515L	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1455L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1515					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCACCCTTCACGGACTCACAG	0.552000													30	75					1.88708e-17	2.74882e-17	1	1	0
FKBP10	60681	broad.mit.edu	37	17	39973440	39973440	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:39973440G>T	ENST00000321562.4	+	2	480	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCTGGGCTATGGGAGCATCGG	0.652000													22	60					2.21704e-12	2.97177e-12	1	1	0
DUSP8	1850	broad.mit.edu	37	11	1586994	1586994	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:1586994C>A	ENST00000397374.3	-	2	190	c.63G>T	c.(61-63)cgG>cgT	p.R21R	DUSP8_ENST00000331588.4_Silent_p.R21R	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	21					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CAGGCCCGCCCCGCAGCAGGC	0.662000													46	74					1.39843e-22	2.13578e-22	1	1	0
TFPI2	7980	broad.mit.edu	37	7	93519621	93519621	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:93519621C>T	ENST00000222543.5	-	2	411	c.99G>A	c.(97-99)gcG>gcA	p.A33A	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.A33A	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	33					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GACAGATCTCCGCGTTATTTC	0.572000													10	54					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46939381	46939381	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:46939381G>T	ENST00000313049.5	+	4	553	c.350G>T	c.(349-351)tGc>tTc	p.C117F	PTH1R_ENST00000430002.2_Missense_Mutation_p.C117F|PTH1R_ENST00000418619.1_Missense_Mutation_p.C117F|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.C117F			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	117						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CACATCCTGTGCTGGCCGCTG	0.607000													10	33					4.68919e-08	5.65395e-08	1	1	0
PRSS35	167681	broad.mit.edu	37	6	84234145	84234145	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr6:84234145G>A	ENST00000536636.1	+	3	1330	c.985G>A	c.(985-987)Gac>Aac	p.D329N	PRSS35_ENST00000369700.3_Missense_Mutation_p.D329N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	329	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CAGTGTGTCCGACGAATCCAA	0.483000													18	62					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163815	159163815	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:159163815C>T	ENST00000368125.4	+	5	833	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CADM3_ENST00000368124.4_Missense_Mutation_p.R260C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	226	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CACCTCTCAACGCATTGAAGT	0.498000													8	79					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103518708	103518708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr13:103518708G>T	ENST00000355739.4	+	10	3719	c.2296G>T	c.(2296-2298)Gga>Tga	p.G766*	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R1191L|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TACTGTCACCGGACAGATGTT	0.522000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	67					2.27111e-07	2.62532e-07	1	1	0
PHKG1	5260	broad.mit.edu	37	7	56149352	56149352	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:56149352G>C	ENST00000452681.2	-	10	1134	c.985C>G	c.(985-987)Cgg>Ggg	p.R329G	PHKG1_ENST00000537360.1_Missense_Mutation_p.R243G|PHKG1_ENST00000297373.2_Missense_Mutation_p.R297G	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	297					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGAAGTGCCGCACTTCCTCC	0.607000													13	35					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765776	110765776	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:110765776C>T	ENST00000395494.2	+	7	1531	c.968C>T	c.(967-969)tCa>tTa	p.S323L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S350L|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S350L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	350					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GTTATCTGCTCAGACAAGACT	0.458000													24	82					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564646	99564646	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:99564646C>A	ENST00000292401.4	-	4	1013	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	293					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCCAGGGCACCACGAGGGGC	0.642000													28	96					1.30897e-18	1.92901e-18	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201606	248201606	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:248201606T>A	ENST00000366479.2	+	1	133	c.37T>A	c.(37-39)Tta>Ata	p.L13I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATTTCATCTTATTGGGGCT	0.363000													51	143					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554472	140554472	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:140554472G>A	ENST00000231137.3	+	1	2230	c.2056G>A	c.(2056-2058)Gtc>Atc	p.V686I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		686					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCTCACCGTCTACCTGGT	0.711000													13	229					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187863	58187863	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:58187863G>T	ENST00000318203.5	+	3	1047	c.350G>T	c.(349-351)aGa>aTa	p.R117I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	117	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)		AACTTGGAGAGATTCATAGAA	0.413000													37	83					1.03484e-13	1.42502e-13	1	1	0
ZNF768	79724	broad.mit.edu	37	16	30536019	30536019	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr16:30536019C>A	ENST00000380412.5	-	2	1617	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V	ZNF768_ENST00000562803.1_Missense_Mutation_p.G450V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	481					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCCGCTCGCCCGTGTGGGA	0.682000													4	26					0.00909568	0.00951084	1	1	0
FCN2	2220	broad.mit.edu	37	9	137778319	137778319	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:137778319C>A	ENST00000350339.2	+	6	503	c.489C>A	c.(487-489)aaC>aaA	p.N163K	FCN2_ENST00000291744.6_Missense_Mutation_p.N201K	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	201	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TTGAGGACAACTACCAGTTTG	0.552000													66	91					5.00936e-31	7.84073e-31	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212576790	212576790	+	Missense_Mutation	SNP	A	A	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:212576790A>G	ENST00000342788.4	-	9	1419	c.1109T>C	c.(1108-1110)gTc>gCc	p.V370A	ERBB4_ENST00000436443.1_Missense_Mutation_p.V370A|ERBB4_ENST00000402597.1_Missense_Mutation_p.V370A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	370					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATACCAGTGACTAGAAAGAT	0.338000										TSP Lung(8;0.080)			5	48					0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	9912116	9912116	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:9912116C>T	ENST00000317173.4	+	1	339	c.90C>T	c.(88-90)atC>atT	p.I30I	MSRA_ENST00000441698.2_Silent_p.I30I|MSRA_ENST00000518255.1_Silent_p.I30I	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	30					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCTCGAACATCGTCAGCCCCC	0.701000													4	28					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66394035	66394035	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:66394035C>T	ENST00000310137.4	+	3	2045	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	636					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTGGATTACCGTCGCCTGCC	0.592000													14	34					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													3	31					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233323118	233323118	+	Splice_Site	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:233323118G>A	ENST00000295463.3	+	9	1260	c.1183_splice	c.e9+1	p.G395_splice		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	395					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTCCATCTTCGGTAGGCCTGG	0.567000													10	11					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114514731	114514731	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr13:114514731C>T	ENST00000375353.3	+	9	863	c.836C>T	c.(835-837)gCg>gTg	p.A279V	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B																		TTCCCAGTTGCGCCCTCCTCT	0.652000													6	70					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19384137	19384137	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:19384137T>A	ENST00000328405.2	+	4	767	c.501T>A	c.(499-501)agT>agA	p.S167R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	167						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGAGACGGAGTCGAGCAGTCC	0.438000													17	71					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555689	44555689	+	Silent	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:44555689T>A	ENST00000289547.4	-	18	3763	c.3708A>T	c.(3706-3708)ggA>ggT	p.G1236G	NPC1L1_ENST00000381160.3_Silent_p.G1209G|NPC1L1_ENST00000546276.1_Silent_p.G1163G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1236					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCACCGCACTTCCCATAGAGA	0.627000													4	16					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569990	248569990	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:248569990C>A	ENST00000366474.1	+	1	695	c.695C>A	c.(694-696)cCa>cAa	p.P232Q		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGAGGCACCAGCAGTCCTG	0.507000													16	74					4.14922e-12	5.50317e-12	1	1	0
CCDC181	57821	broad.mit.edu	37	1	169366521	169366521	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:169366521A>C	ENST00000545005.1	-	6	1828	c.1321T>G	c.(1321-1323)Tta>Gta	p.L441V	CCDC181_ENST00000367805.3_Missense_Mutation_p.L441V|CCDC181_ENST00000367806.3_Missense_Mutation_p.L442V					coiled-coil domain containing 181																		AGGAAGAATAAACATTCCTCT	0.408000													12	29					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7692212	7692212	+	Silent	SNP	G	G	T	rs143346745		TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:7692212G>T	ENST00000358368.4	-	4	476	c.439C>A	c.(439-441)Cga>Aga	p.R147R	XAB2_ENST00000534844.1_Silent_p.R144R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	147					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGCCAAATTCGAGAGTGCTGC	0.632000								Direct reversal of damage;Nucleotide excision repair (NER)					3	37					0.115264	0.117123	1	1	0
VSTM4	196740	broad.mit.edu	37	10	50315974	50315974	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:50315974T>C	ENST00000332853.3	-	2	145	c.122A>G	c.(121-123)aAt>aGt	p.N41S	VSTM4_ENST00000298454.3_Missense_Mutation_p.N41S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	41	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GAGAGTGGCATTCTCCCCCTC	0.602000													9	32					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100658909	100658909	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:100658909C>G	ENST00000218516.3	-	2	280	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	87					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)	CAGAGGTACTCATAACCTGCA	0.473000													26	79					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645134	167645134	+	Missense_Mutation	SNP	G	G	A	rs78965008	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:167645134G>A	ENST00000519204.1	+	22	3993	c.3875G>A	c.(3874-3876)cGt>cAt	p.R1292H	TENM2_ENST00000518659.1_Missense_Mutation_p.R1413H|TENM2_ENST00000520394.1_Missense_Mutation_p.R1174H|TENM2_ENST00000545108.1_Missense_Mutation_p.R1412H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1237H					teneurin transmembrane protein 2																		CCACAGGTTCGTCTGGAGTGG	0.428000													28	115					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181862	128181862	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:128181862C>A	ENST00000469083.1	-	2	2784	c.227G>T	c.(226-228)gGt>gTt	p.G76V	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G76V			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	76					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGCCCCGCCACCAGCCCGCCA	0.597000													11	105					5.16669e-11	6.60916e-11	1	1	0
DDX23	9416	broad.mit.edu	37	12	49225085	49225085	+	Silent	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:49225085T>C	ENST00000308025.3	-	16	2158	c.2079A>G	c.(2077-2079)acA>acG	p.T693T		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	693	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CACCGTGCAGTGTGCAAGCAT	0.517000													44	133					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750998	6750998	+	Silent	SNP	G	G	C	rs79417223		TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:6750998G>C	ENST00000378827.4	+	2	1444	c.225G>C	c.(223-225)gtG>gtC	p.V75V		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	75					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACGCCGTGGTGCCCCCCTACA	0.657000													5	36					0	0	1	0	0
RBM4	5936	broad.mit.edu	37	11	66411316	66411316	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:66411316G>A	ENST00000409406.1	+	2	1585	c.808G>A	c.(808-810)Gat>Aat	p.D270N	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_Missense_Mutation_p.D245N|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.D270N|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.D270N|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.D245N|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.D270N|RBM4_ENST00000578778.1_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CACCTCTCTCGATCCCTACGA	0.577000													11	81					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112269	248112269	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:248112269C>A	ENST00000357191.3	+	1	110	c.110C>A	c.(109-111)gCt>gAt	p.A37D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			TTCCTGATGGCTCTAATTGGA	0.403000													129	291					1.04718e-44	1.65969e-44	1	1	0
WNK2	65268	broad.mit.edu	37	9	96062415	96062415	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:96062415C>A	ENST00000297954.4	+	26	6309	c.6309C>A	c.(6307-6309)ccC>ccA	p.P2103P	WNK2_ENST00000427277.2_Silent_p.P1678P|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.P2066P|WNK2_ENST00000349097.3_Silent_p.P1715P|WNK2_ENST00000356055.3_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2103					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.P2103P(1)|p.P2051P(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCAGTGGACCCGTATCTGTGT	0.473000													40	99					8.16277e-20	1.21717e-19	1	1	0
GRM5	2915	broad.mit.edu	37	11	88338057	88338057	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:88338057G>C	ENST00000418177.2	-	5	1590	c.1223C>G	c.(1222-1224)gCc>gGc	p.A408G	GRM5_ENST00000393297.1_Missense_Mutation_p.A408G|GRM5_ENST00000305447.4_Missense_Mutation_p.A408G|GRM5_ENST00000305432.5_Missense_Mutation_p.A408G|GRM5_ENST00000455756.2_Missense_Mutation_p.A408G			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	408					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGCCCATAGGCCATCGAATA	0.468000													13	84					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098801	178098801	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:178098801C>G	ENST00000397062.3	-	2	798	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E82Q(6)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GGGAGAAATTCACCTGTCTCT	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			7	58					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123922513	123922513	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:123922513G>A	ENST00000373855.1	+	32	5282	c.5022G>A	c.(5020-5022)aaG>aaA	p.K1674K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373844.1_Silent_p.K119K|CNTRL_ENST00000373850.1_Silent_p.K1122K|CNTRL_ENST00000238341.5_Silent_p.K1674K			Q7Z7A1	CNTRL_HUMAN	centriolin	1674					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CACTTATAAAGCAGGAAATTG	0.313000													7	73					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444940	49444940	+	Silent	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:49444940C>G	ENST00000301067.7	-	10	2525	c.2526G>C	c.(2524-2526)ctG>ctC	p.L842L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCGGGGGGACAGGCATGGCT	0.642000													20	143					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62704015	62704015	+	Silent	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:62704015G>T	ENST00000371153.4	-	10	3300	c.2922C>A	c.(2920-2922)ccC>ccA	p.P974P	KANK4_ENST00000354381.3_Silent_p.P346P|KANK4_ENST00000317477.4_Silent_p.P112P|KANK4_ENST00000371150.1_Silent_p.P330P	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	974										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCATATGGGTGGGTGACTTCA	0.557000													6	30					2.7689e-08	3.37083e-08	1	1	0
ANTXR1	84168	broad.mit.edu	37	2	69472589	69472589	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:69472589C>T	ENST00000303714.4	+	18	1989	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	556	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cctcctccctcccgccctcct	0.627000									Familial Infantile Hemangioma				19	29					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24244731	24244731	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:24244731C>G	ENST00000338315.4	+	8	785	c.785C>G	c.(784-786)cCa>cGa	p.P262R	MFSD2B_ENST00000406420.3_Missense_Mutation_p.P262R			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	262					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCTCTGCCCCAGCCTCAGGC	0.602000													13	37					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712441	140712441	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1												p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662000													15	148					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47486576	47486576	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:47486576C>T	ENST00000247153.3	-	6	971	c.730G>A	c.(730-732)Gag>Aag	p.E244K	CFP_ENST00000396992.3_Missense_Mutation_p.E244K|CFP_ENST00000377005.2_Missense_Mutation_p.E244K	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	244	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CTCCGCTGCTCGTAGGCTAGC	0.637000													5	15					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811114	24811114	+	RNA	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:24811114C>A	ENST00000221169.5	-	0	1959							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAATGGTTTCCTCCACTTCGA	0.582000													11	52					7.03913e-09	8.78148e-09	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48539131	48539131	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:48539131G>A	ENST00000396577.3	+	12	1693	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	SLC12A1_ENST00000380993.3_Missense_Mutation_p.G493D|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G493D	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	493					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCAGGGTTCGGCCCCCTCATC	0.493000													60	194					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079692	57079692	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:57079692C>A	ENST00000316981.3	-	5	1092	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	PLAG1_ENST00000423799.2_Missense_Mutation_p.V123L|PLAG1_ENST00000429357.2_Missense_Mutation_p.V205L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	205	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGTGCACCACCATGTGTCTC	0.488000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								16	79					1.52009e-12	2.04847e-12	1	1	0
BHLHE22	27319	broad.mit.edu	37	8	65493731	65493731	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:65493731G>C	ENST00000321870.1	+	1	918	c.384G>C	c.(382-384)aaG>aaC	p.K128N	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	128	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TTTGCCTCAAGTACGGCGAAA	0.741000													2	2					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370925	48370925	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:48370925C>A	ENST00000395702.2	+	2	620	c.393C>A	c.(391-393)gcC>gcA	p.A131A	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.A24A			Q96MN9	ZN488_HUMAN	zinc finger protein 488	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AACCTGGTGCCCCACAGCTGA	0.632000													15	41					7.93312e-07	9.04591e-07	1	1	0
DHX9	1660	broad.mit.edu	37	1	182845247	182845247	+	Silent	SNP	A	A	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:182845247A>G	ENST00000367549.3	+	17	1988	c.1878A>G	c.(1876-1878)caA>caG	p.Q626Q		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	626					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCATGTCTCAATTGAACGAAA	0.398000													37	116					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30359174	30359174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr21:30359174G>A	ENST00000361371.4	-	2	274	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	LTN1_ENST00000389195.2_Nonsense_Mutation_p.Q88*|LTN1_ENST00000389194.2_Nonsense_Mutation_p.Q88*	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	42							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGTCACTCTGAGATGTTCCA	0.438000													6	106					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19519034	19519034	+	Splice_Site	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:19519034G>A	ENST00000375267.2	-	10	1147	c.1143_splice	c.e10-1	p.L382_splice	UBR4_ENST00000375254.3_Splice_Site_p.L382_splice|UBR4_ENST00000375226.2_Splice_Site_p.L382_splice|UBR4_ENST00000375217.2_Splice_Site_p.L382_splice			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	382					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAGATTTCGAGCTGTACAATA	0.398000													9	28					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723444	7723444	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:7723444C>A	ENST00000303635.7	+	9	1044	c.837C>A	c.(835-837)aaC>aaA	p.N279K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N279K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAAGTGTAACAGCGCCAAAC	0.622000			T	WWTR1	epitheliod hemangioendothelioma								45	180					2.77807e-22	4.21731e-22	1	1	0
STXBP1	6812	broad.mit.edu	37	9	130420698	130420698	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:130420698G>C	ENST00000373302.3	+	4	353	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	STXBP1_ENST00000373299.1_Missense_Mutation_p.E72Q	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	72					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCCCAGCCTGGAGGCTGTGTA	0.478000													18	161					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68936305	68936305	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr16:68936305G>T	ENST00000261778.1	+	9	1577	c.1565G>T	c.(1564-1566)gGa>gTa	p.G522V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		AGCCTGAAAGGATTTGCAGGG	0.448000													5	98					1.024e-07	1.20583e-07	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41019059	41019059	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:41019059T>A	ENST00000399564.4	-	25	2953	c.2503A>T	c.(2503-2505)Agg>Tgg	p.R835W	MROH2B_ENST00000506092.2_Missense_Mutation_p.R390W	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGCAGCAGCCTCCGAATATTC	0.463000													9	48					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811339	7811339	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:7811339C>G	ENST00000303635.7	+	20	4977	c.4770C>G	c.(4768-4770)ttC>ttG	p.F1590L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.F1576L|CAMTA1_ENST00000476864.1_Missense_Mutation_p.F154L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1590	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAAAAAAATTCCAGCAGAGCC	0.463000			T	WWTR1	epitheliod hemangioendothelioma								23	291					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463849	247463849	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:247463849C>G	ENST00000294753.4	-	9	2200	c.1736G>C	c.(1735-1737)cGt>cCt	p.R579P	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615P|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCTTGGAACGGCGCTTCAT	0.642000													18	52					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52602071	52602071	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr18:52602071G>A	ENST00000591504.1	-	7	854	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	CCDC68_ENST00000432185.1_Missense_Mutation_p.L194F|CCDC68_ENST00000337363.4_Missense_Mutation_p.L194F	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	194										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CTCTGTACAAGGTTCTCCAAT	0.318000													9	50					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034649	9034649	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:9034649G>T	ENST00000383836.3	-	20	2926	c.2499C>A	c.(2497-2499)aaC>aaA	p.N833K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.N809K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	833					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ACTGGAGGTCGTTTTTGGAAG	0.577000			T	RAF1	pilocytic astrocytoma								13	56					5.50884e-06	6.1699e-06	1	1	0
STMN4	81551	broad.mit.edu	37	8	27097515	27097515	+	Silent	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:27097515G>T	ENST00000350889.4	-	6	677	c.564C>A	c.(562-564)gcC>gcA	p.A188A	STMN4_ENST00000522908.1_Silent_p.A188A|STMN4_ENST00000523048.1_Silent_p.A188A|STMN4_ENST00000519614.1_Silent_p.A161A|STMN4_ENST00000265770.7_Silent_p.A161A|STMN4_ENST00000519997.1_Silent_p.A152A	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	161					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CCAACATGGCGGCGAGGTGGG	0.527000													16	62					6.31663e-08	7.54403e-08	1	1	0
PRKACA	5566	broad.mit.edu	37	19	14208663	14208663	+	Silent	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:14208663C>G	ENST00000308677.4	-	6	655	c.459G>C	c.(457-459)ctG>ctC	p.L153L	PRKACA_ENST00000589994.1_Silent_p.L145L|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	153	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						ACTCAAAGGTCAGGACGATCT	0.572000													6	81					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68120183	68120183	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:68120183G>C	ENST00000380035.2	+	2	2075	c.2017G>C	c.(2017-2019)Gac>Cac	p.D673H	SKOR1_ENST00000554240.1_Missense_Mutation_p.D634H|SKOR1_ENST00000341418.5_Missense_Mutation_p.D613H|SKOR1_ENST00000554054.1_Missense_Mutation_p.D645H|SKOR1_ENST00000389002.1_Missense_Mutation_p.D629H			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	673					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGACGACGAGGACGCCCAAGA	0.706000													2	3					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876873	42876873	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr13:42876873C>T	ENST00000025301.2	+	8	4166	c.3991C>T	c.(3991-3993)Ctg>Ttg	p.L1331L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1331					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TATGTCAGGTCTGATGTATAA	0.383000													9	84					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191334528	191334528	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:191334528A>T	ENST00000392328.1	+	4	1901	c.1577A>T	c.(1576-1578)tAt>tTt	p.Y526F	MFSD6_ENST00000281416.7_Missense_Mutation_p.Y526F|MFSD6_ENST00000489793.1_3'UTR|MFSD6_ENST00000535751.1_5'UTR	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	526					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGCTATATTTATATTTCCTAC	0.368000													6	68					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75156935	75156935	+	Silent	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:75156935T>C	ENST00000342232.4	-	4	1774	c.1734A>G	c.(1732-1734)tcA>tcG	p.S578S	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	578					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCACCAGTGCTGAGGAAGACT	0.532000													12	178					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049992	62049992	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:62049992G>T	ENST00000578147.1	-	1	286	c.210C>A	c.(208-210)gaC>gaA	p.D70E	SCN4A_ENST00000435607.1_Missense_Mutation_p.D70E			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	70					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCGGCGGGGGGTCTCCGTAGA	0.597000													3	12					0.115264	0.117123	1	1	0
OR2T1	26696	broad.mit.edu	37	1	248569989	248569989	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:248569989C>A	ENST00000366474.1	+	1	694	c.694C>A	c.(694-696)Cca>Aca	p.P232T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGAGGCACCAGCAGTCCT	0.512000													16	73					4.14922e-12	5.50317e-12	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166756310	166756310	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:166756310C>G	ENST00000243344.7	-	21	2975	c.2838G>C	c.(2836-2838)caG>caC	p.Q946H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	946						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTGGTCACTCTGAAGCAGTA	0.443000													6	92					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351300	121351300	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:121351300C>A	ENST00000314583.3	-	12	1210	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	HCLS1_ENST00000428394.2_Missense_Mutation_p.E336D|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	373					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CATTctcaggctcgggctcag	0.597000													35	168					2.20474e-14	3.05271e-14	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11511555	11511555	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:11511555T>C	ENST00000262442.3	+	2	595	c.527T>C	c.(526-528)aTa>aCa	p.I176T	DNAH9_ENST00000454412.2_Missense_Mutation_p.I176T|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.I176T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	176	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTCAGTTATACTTGAGCAA	0.507000													44	178					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432565	104432565	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:104432565C>G	ENST00000361820.3	-	3	2729	c.2129G>C	c.(2128-2130)aGa>aCa	p.R710T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	710					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GACTTTACTTCTATTTCGCCC	0.468000													26	122					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132058512	132058512	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr6:132058512G>A	ENST00000414305.1	+	23	2435	c.2107G>A	c.(2107-2109)Gat>Aat	p.D703N	ENPP3_ENST00000358229.5_Silent_p.Q657Q|ENPP3_ENST00000357639.3_Missense_Mutation_p.D703N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	703	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.D703Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TAGAACATCAGATAGCCAATA	0.294000													15	81					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404948	220404948	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:220404948C>A	ENST00000243776.6	-	4	1733	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	CHPF_ENST00000535926.1_Missense_Mutation_p.E333D	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	495						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGGCAAGATCTCCACGCGGC	0.667000													5	27					0.000602214	0.000654129	1	1	0
TUBB4A	10382	broad.mit.edu	37	19	6501408	6501408	+	Splice_Site	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:6501408C>A	ENST00000264071.2	-	3	538	c.166_splice	c.e3-1	p.G56_splice	TUBB4A_ENST00000596926.1_Splice_Site_p.G56_splice|TUBB4A_ENST00000598006.1_Splice_Site_p.E42_splice|TUBB4A_ENST00000540257.1_Splice_Site_p.G56_splice|TUBB4A_ENST00000601152.1_Splice_Site_p.E31_splice			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	56					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ATAATTTCCTCCTGCAGGGAA	0.622000													15	26					1.05317e-09	1.32699e-09	1	1	0
TLL2	7093	broad.mit.edu	37	10	98146741	98146741	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:98146741G>A	ENST00000357947.3	-	14	2046	c.1821C>T	c.(1819-1821)taC>taT	p.Y607Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	607	EGF-like 1; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGCCAGCTCGTAGCCAGGGT	0.577000													25	122					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191334511	191334511	+	Silent	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:191334511T>C	ENST00000392328.1	+	4	1884	c.1560T>C	c.(1558-1560)aaT>aaC	p.N520N	MFSD6_ENST00000281416.7_Silent_p.N520N|MFSD6_ENST00000489793.1_3'UTR|MFSD6_ENST00000535751.1_5'UTR	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	520					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGGCCTGCAATACGGCTCGCT	0.338000													5	61					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163004009	163004009	+	Silent	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:163004009G>C	ENST00000418842.2	-	3	362	c.108C>G	c.(106-108)tcC>tcG	p.S36S	GCG_ENST00000375497.3_Silent_p.S36S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	36					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	p.S36S(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GGTCTGCCTGGGAAGCTGAGA	0.463000													21	244					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927438	6927438	+	Silent	SNP	A	A	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:6927438A>G	ENST00000293805.5	+	3	308	c.216A>G	c.(214-216)ggA>ggG	p.G72G	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	72	BTB.					nucleus	zinc ion binding			skin(1)	1						GCCGTGCGGGAGTCGGGGTGG	0.602000													38	138					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755929	10755929	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:10755929C>A	ENST00000416569.2	-	3	1485	c.1459G>T	c.(1459-1461)Ggg>Tgg	p.G487W	XKR6_ENST00000304437.2_Missense_Mutation_p.G208W	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	487						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ATTGCGATCCCAGCCACAAAG	0.527000													7	35					8.12818e-05	8.98378e-05	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45444087	45444087	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:45444087G>A	ENST00000321429.4	+	25	3437	c.3030G>A	c.(3028-3030)caG>caA	p.Q1010Q	DUOX1_ENST00000389037.3_Silent_p.Q1010Q|DUOX1_ENST00000561166.1_Silent_p.Q656Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1010	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGTCATTCCAGCCCTTGCTGT	0.602000													15	88					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206143	155206143	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:155206143T>A	ENST00000428024.2	-	7	1358	c.856A>T	c.(856-858)Acc>Tcc	p.T286S	GBA_ENST00000327247.5_Missense_Mutation_p.T373S|GBA_ENST00000427500.2_Missense_Mutation_p.T324S|GBA_ENST00000368373.3_Missense_Mutation_p.T373S|GBA_ENST00000536770.1_Missense_Mutation_p.T260S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	373					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AAGAGCATGGTGTTGGGGAAC	0.562000									Gaucher disease type I				12	50					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565350	18565350	+	Missense_Mutation	SNP	G	G	C	rs9912644	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:18565350G>C	ENST00000545289.1	-	5	1719	c.1469C>G	c.(1468-1470)aCc>aGc	p.T490S		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T490S(2)		endometrium(1)|lung(1)	2						TTTCTCTCCGGTATGAGTTCT	0.393000													3	49					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872634	55872634	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:55872634C>A	ENST00000313503.1	+	1	116	c.116C>A	c.(115-117)aCt>aAt	p.T39N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TACCTAATTACTATGCTGGGG	0.418000										HNSCC(53;0.14)			81	222					1.92865e-43	3.03762e-43	1	1	0
PDPK1	5170	broad.mit.edu	37	16	2607892	2607892	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr16:2607892G>A	ENST00000342085.4	+	2	362	c.213G>A	c.(211-213)ccG>ccA	p.P71P	PDPK1_ENST00000441549.3_Silent_p.P71P|PDPK1_ENST00000354836.5_Silent_p.P71P|PDPK1_ENST00000268673.7_Silent_p.P71P|PDPK1_ENST00000389224.3_Silent_p.P44P	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	71					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCCAGCCTCCGCCGCAGCCTC	0.647000													12	36					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516202	19516202	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:19516202C>T	ENST00000341998.2	-	10	1996	c.1935G>A	c.(1933-1935)gtG>gtA	p.V645V	SLC24A2_ENST00000286344.3_Silent_p.V628V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	645					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAACGCTCACCACCAGGAACA	0.498000													48	174					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417643	178417643	+	Missense_Mutation	SNP	T	T	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:178417643T>G	ENST00000231188.5	-	4	1140	c.962A>C	c.(961-963)gAc>gCc	p.D321A	GRM6_ENST00000517717.1_Missense_Mutation_p.D321A	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	321					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AACGGCCACGTCCTCCAGGCT	0.667000													3	17					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028887	18028887	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr22:18028887G>A	ENST00000262608.8	+	16	3847	c.3847G>A	c.(3847-3849)Gca>Aca	p.A1283T	CECR2_ENST00000400573.4_Missense_Mutation_p.A1282T|CECR2_ENST00000400585.2_Missense_Mutation_p.A1140T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1324					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAACCATAACGCAGCTACCAA	0.502000													9	128					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177547519	177547519	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr5:177547519G>T	ENST00000274605.5	+	3	1030	c.671G>T	c.(670-672)cGg>cTg	p.R224L		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	224						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCTGGACCGGGCCTCTCAA	0.657000													15	88					2.31682e-05	2.57198e-05	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96779474	96779474	+	Missense_Mutation	SNP	C	C	T	rs149230704	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:96779474C>T	ENST00000359933.4	-	25	4663	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1257								p.R1257L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAGAAGAGATCGGATTGGCAA	0.378000													11	66					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863004	10863004	+	RNA	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr21:10863004G>T	ENST00000559480.1	+	0	300																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAGCCTACATGGAGCTAAGCA	0.502000													61	642					5.82218e-30	9.05672e-30	1	1	0
COBLL1	22837	broad.mit.edu	37	2	165560972	165560972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:165560972C>A	ENST00000375458.2	-	8	1428	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E469*|COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E441*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.E441*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E403*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	441										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GATAGCTCCTCAGGAGAGTTT	0.418000													4	81					0.150653	0.152469	1	1	0
GRM7	2917	broad.mit.edu	37	3	6903475	6903475	+	Missense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:6903475G>A	ENST00000486284.1	+	1	674	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	GRM7_ENST00000402647.2_Missense_Mutation_p.V134M|GRM7_ENST00000389336.4_Missense_Mutation_p.V134M|GRM7_ENST00000403881.1_Missense_Mutation_p.V134M|GRM7_ENST00000357716.4_Missense_Mutation_p.V134M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	134					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CACCTCCGACGTGCGCTGCAC	0.597000													12	49					0	0	1	0	0
ATG3	64422	broad.mit.edu	37	3	112262939	112262939	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:112262939T>A	ENST00000402314.2	-	6	745	c.358A>T	c.(358-360)Acg>Tcg	p.T120S	ATG3_ENST00000283290.5_Missense_Mutation_p.T120S|ATG3_ENST00000495756.1_5'UTR			Q9NT62	ATG3_HUMAN	autophagy related 3	120					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ACGGCTTCCGTTATTCCTGTA	0.269000													13	34					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240264	132240264	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:132240264A>C	ENST00000321253.6	+	5	1303	c.1196A>C	c.(1195-1197)tAt>tCt	p.Y399S		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	399					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GATCTCATGTATGCCAAGCGG	0.612000													17	250					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467547	164467547	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:164467547C>A	ENST00000333129.3	-	3	1109	c.795G>T	c.(793-795)ggG>ggT	p.G265G	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	265	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCGGTGCCCCCCCAGGGCTGT	0.612000													24	45					1.10513e-12	1.49728e-12	1	1	0
OR5A2	219981	broad.mit.edu	37	11	59189613	59189613	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:59189613C>T	ENST00000302040.4	-	1	836	c.814G>A	c.(814-816)Gac>Aac	p.D272N		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D272Y(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACCACCTTGTCCCTGTTTAGG	0.473000													10	108					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432505	104432505	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:104432505C>G	ENST00000361820.3	-	3	2789	c.2189G>C	c.(2188-2190)aGa>aCa	p.R730T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	730					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGCCACTGTTCTGCCAAACAA	0.438000													18	102					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210225	100210225	+	Missense_Mutation	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:100210225T>C	ENST00000317233.4	-	14	2133	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	AFF3_ENST00000356421.2_Missense_Mutation_p.N658S|AFF3_ENST00000409579.1_Missense_Mutation_p.N658S|AFF3_ENST00000409236.1_Missense_Mutation_p.N633S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	633					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTCGCTCTGTTGTTGCCACA	0.692000													20	33					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021391	8021391	+	Silent	SNP	G	G	T	rs41266515		TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:8021391G>T	ENST00000318888.4	-	13	1351	c.480C>A	c.(478-480)ggC>ggA	p.G160G	ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000545242.1_Silent_p.G426G|ABLIM2_ENST00000341937.5_Silent_p.G426G|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000361581.5_Silent_p.G426G|ABLIM2_ENST00000514025.1_Silent_p.G160G|ABLIM2_ENST00000447017.2_Silent_p.G459G|ABLIM2_ENST00000296372.8_Silent_p.G426G|ABLIM2_ENST00000361737.5_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	426	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TATCTTTTACGCCAGTGTCTG	0.468000													10	47					1.76689e-08	2.17199e-08	1	1	0
NRG1	3084	broad.mit.edu	37	8	32621319	32621319	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:32621319C>A	ENST00000338921.4	+	13	1863	c.1346C>A	c.(1345-1347)aCg>aAg	p.T449K	NRG1_ENST00000539990.1_Missense_Mutation_p.T284K|NRG1_ENST00000287842.3_Missense_Mutation_p.T438K|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.T441K|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.T446K|NRG1_ENST00000287840.5_Missense_Mutation_p.T441K|NRG1_ENST00000519301.1_Missense_Mutation_p.T391K|NRG1_ENST00000287845.5_Missense_Mutation_p.T412K			Q02297	NRG1_HUMAN	neuregulin 1	441					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GATTTCCACACGCCAAGCTCC	0.557000													27	119					5.61819e-17	8.09019e-17	1	1	0
ALDH4A1	8659	broad.mit.edu	37	1	19208340	19208340	+	Silent	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:19208340C>A	ENST00000375341.3	-	8	977	c.720G>T	c.(718-720)ctG>ctT	p.L240L	ALDH4A1_ENST00000538839.1_Silent_p.L240L|ALDH4A1_ENST00000538309.1_Silent_p.L180L|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.L240L	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	240					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CATAGCTGGCCAGCATGGCAG	0.617000													3	27					0.004672	0.0049677	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25322123	25322123	+	RNA	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:25322123G>C	ENST00000549804.2	+	0	1229																											AGAGGCTTTTGGATCCGTCGT	0.478000													12	27					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10364329	10364329	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:10364329C>A	ENST00000255381.2	-	12	1161	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	351	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTAAATGGCCACCTTTTCA	0.478000													22	110					8.10497e-08	9.63421e-08	1	1	0
ZNF707	286075	broad.mit.edu	37	8	144775972	144775972	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:144775972G>T	ENST00000532205.1	+	8	1287	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	ZNF707_ENST00000358656.4_Missense_Mutation_p.D130Y|ZNF707_ENST00000454097.1_Missense_Mutation_p.D130Y|ZNF707_ENST00000418203.2_Missense_Mutation_p.D130Y|ZNF707_ENST00000532158.1_Missense_Mutation_p.D130Y			Q96C28	ZN707_HUMAN	zinc finger protein 707	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGACACGGATGACGGGCAGCT	0.622000													6	38					2.7689e-08	3.37083e-08	1	1	0
PIGU	128869	broad.mit.edu	37	20	33232030	33232030	+	Splice_Site	SNP	T	T	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:33232030T>C	ENST00000374820.2	-	3	216	c.195_splice	c.e3-1	p.I66_splice	PIGU_ENST00000452740.2_Splice_Site_p.I86_splice			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	86					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GCATCAGTTATCTGTCAAAAG	0.408000													19	72					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41193186	41193186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:41193186G>T	ENST00000220509.5	+	4	2509	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	724					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGAGCTGTATGAGGAGGCCGT	0.602000													4	40					0.00909568	0.00951084	1	1	0
POLE	5426	broad.mit.edu	37	12	133249225	133249225	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:133249225G>A	ENST00000320574.5	-	15	1717	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	POLE_ENST00000535270.1_Silent_p.C531C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	558					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCCTAAACCGGCAAGGGATAT	0.577000								DNA polymerases (catalytic subunits)					4	59					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456808	25456808	+	RNA	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:25456808C>A	ENST00000424208.1	+	0	2439				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GGCAAGTGTCCGTCAGCCAGG	0.602000													15	36					2.61681e-11	3.38173e-11	1	1	0
GPR112	139378	broad.mit.edu	37	X	135488054	135488054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:135488054G>A	ENST00000394143.1	+	23	9149	c.8858G>A	c.(8857-8859)tGg>tAg	p.W2953*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.W2748*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.W2706*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.W2748*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.W2953*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2953					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCCTCACCTGGGGGTTTGCA	0.438000													59	74					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33885676	33885676	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:33885676A>T	ENST00000307296.3	+	11	1809	c.1432A>T	c.(1432-1434)Agg>Tgg	p.R478W	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.R483W			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	478	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						ACGTTGGCAAAGGACACCATC	0.353000													11	74					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175346332	175346332	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:175346332C>A	ENST00000392552.2	-	2	591	c.353G>T	c.(352-354)tGt>tTt	p.C118F	GPR155_ENST00000295500.4_Missense_Mutation_p.C118F|GPR155_ENST00000392551.2_Missense_Mutation_p.C118F	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	118					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GGTTAATACACATACAATGAA	0.338000													68	142					1.08241e-25	1.66321e-25	1	1	0
USP6	9098	broad.mit.edu	37	17	5050377	5050377	+	Splice_Site	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:5050377G>T	ENST00000574788.1	+	29	4549		c.e29-1		USP6_ENST00000250066.6_Splice_Site|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Splice_Site			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)						protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGTTTCTGTAGAACTTTCCTC	0.383000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								16	52					2.32078e-09	2.90964e-09	1	1	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	41					0	0	1	0	0
IFNA1	3439	broad.mit.edu	37	9	21440510	21440510	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:21440510G>T	ENST00000276927.1	+	1	71	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	2					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		ATCTACGATGGCCTCGCCCTT	0.532000													29	90					3.1745e-13	4.32418e-13	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106431380	106431380	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr8:106431380G>C	ENST00000407775.2	+	2	299	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	17					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGGCCGCTTGAAGATGCCAT	0.388000													14	38					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303682	151303682	+	Missense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:151303682C>G	ENST00000370323.4	-	4	727	c.411G>C	c.(409-411)aaG>aaC	p.K137N	MAGEA10_ENST00000244096.3_Missense_Mutation_p.K137N|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	137	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAGTCACCTTTTCATCTA	0.458000													22	88					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34907023	34907023	+	Missense_Mutation	SNP	C	C	A	rs145820555	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr21:34907023C>A	ENST00000381831.3	-	4	541	c.278G>T	c.(277-279)tGc>tTc	p.C93F	GART_ENST00000361093.5_Missense_Mutation_p.C93F|GART_ENST00000381839.3_Missense_Mutation_p.C93F|GART_ENST00000381815.4_Missense_Mutation_p.C93F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	93					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.C93F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGGCCAAAGCATTGCACTCC	0.502000													4	73					2.56e-06	2.89291e-06	1	1	0
ANK2	287	broad.mit.edu	37	4	114280399	114280399	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:114280399C>A	ENST00000357077.4	+	38	10678	c.10625C>A	c.(10624-10626)tCt>tAt	p.S3542Y	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3509Y|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3509	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGGATGAGTCTATTGAGACT	0.483000													32	90					1.74807e-11	2.28245e-11	1	1	0
CDH7	1005	broad.mit.edu	37	18	63511180	63511180	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr18:63511180G>T	ENST00000536984.2	+	7	1808	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	CDH7_ENST00000397968.2_Missense_Mutation_p.D372Y|CDH7_ENST00000323011.3_Missense_Mutation_p.D372Y			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D372Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAAGATGTAGATGAGCCCCC	0.502000													35	95					3.11337e-16	4.4077e-16	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25322124	25322124	+	RNA	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:25322124G>T	ENST00000549804.2	+	0	1230																											GAGGCTTTTGGATCCGTCGTG	0.478000													12	27					1.08611e-07	1.26713e-07	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112637	248112637	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:248112637G>T	ENST00000357191.3	+	1	478	c.478G>T	c.(478-480)Gta>Tta	p.V160L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			TGCTCACACTGTATATGTACT	0.478000													61	148					2.22609e-26	3.44156e-26	1	1	0
ZNF540	163255	broad.mit.edu	37	19	38102699	38102699	+	Nonsense_Mutation	SNP	C	C	G			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr19:38102699C>G	ENST00000592533.1	+	5	850	c.518C>G	c.(517-519)tCa>tGa	p.S173*	ZNF540_ENST00000589117.1_Nonsense_Mutation_p.S141*|ZNF540_ENST00000316433.4_Nonsense_Mutation_p.S173*|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000343599.5_Nonsense_Mutation_p.S173*	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTGTGACTCACACTTGGTT	0.348000													11	75					0	0	1	0	0
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	A	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:7163815A>C	ENST00000360325.7	-	4	948	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_Silent_p.G143G	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	172					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.S172A(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572000													5	21					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1742645	1742645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:1742645G>T	ENST00000313288.4	+	13	2261	c.2155G>T	c.(2155-2157)Gag>Tag	p.E719*		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	719						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAACTCCATGGAGAAGTCCTT	0.468000													12	100					1.08611e-07	1.26713e-07	1	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659644	24659644	+	RNA	SNP	T	T	C	rs28539511	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr22:24659644T>C	ENST00000414583.2	+	0	3169					NR_003714.1																						GCCGGACACGTGGTAGATGCC	0.652000													3	32					0	0	1	0	0
C1orf216	127703	broad.mit.edu	37	1	36181316	36181316	+	Missense_Mutation	SNP	C	C	G	rs147956029	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:36181316C>G	ENST00000270815.4	-	2	1377	c.607G>C	c.(607-609)Gac>Cac	p.D203H		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	203								p.D203Y(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGGATGGTGTCGAAGCTCTCC	0.612000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	148					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715156	70715156	+	Splice_Site	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:70715156C>A	ENST00000226444.3	-	5	607	c.496_splice	c.e5+1	p.Q165_splice		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	165					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGTTCCTACCCTGTCCTTGCA	0.373000													15	68					0.000219431	0.000240421	1	1	0
DNAAF2	55172	broad.mit.edu	37	14	50100868	50100868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:50100868G>A	ENST00000298292.8	-	1	1080	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	DNAAF2_ENST00000406043.3_Nonsense_Mutation_p.Q334*	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	334					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TTGTTGAATTGTGCCTTGCCG	0.701000													4	5					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31619285	31619285	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:31619285C>A	ENST00000399332.1	-	13	2563	c.2075G>T	c.(2074-2076)gGa>gTa	p.G692V	HECTD1_ENST00000553700.1_Missense_Mutation_p.G692V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	692					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTGAACCATCCATTACTGCC	0.398000													28	122					2.48779e-11	3.23157e-11	1	1	0
CCDC109B	55013	broad.mit.edu	37	4	110603814	110603814	+	Missense_Mutation	SNP	T	T	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:110603814T>A	ENST00000394650.4	+	5	661	c.528T>A	c.(526-528)caT>caA	p.H176Q		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	176						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAATCTTGCATTTAGAAGAGT	0.418000													31	95					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1952852	1952852	+	Silent	SNP	C	C	T	rs138013159	byFrequency	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:1952852C>T	ENST00000382895.3	+	12	2366	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	WHSC1_ENST00000508803.1_Silent_p.D645D|WHSC1_ENST00000382891.5_Silent_p.D645D|WHSC1_ENST00000382892.2_Silent_p.D645D|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	645					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAAGTGCAGACGAAACACAAA	0.537000			T	IGH@	MM								8	65					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163215668	163215668	+	Splice_Site	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:163215668G>T	ENST00000437150.2	+	6	729		c.e6+1		GCA_ENST00000233612.4_Splice_Site|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein						cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GCATTGACAGGTATTGACTAT	0.323000													7	74					0.000157383	0.00017319	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109746691	109746691	+	Splice_Site	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr9:109746691G>T	ENST00000277225.5	+	10	7345		c.e10+1		ZNF462_ENST00000542028.1_Splice_Site|ZNF462_ENST00000457913.1_Splice_Site|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Splice_Site			Q96JM2	ZN462_HUMAN	zinc finger protein 462						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGAGCATAAGGTACTTACCAG	0.532000													15	54					1.05317e-09	1.32699e-09	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147336367	147336367	+	Silent	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:147336367C>T	ENST00000361727.3	+	13	2583	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	689	Fibrinogen C-terminal.				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)			TCTCCTATTTCTGCAAGATGT	0.448000										HNSCC(39;0.1)			4	53					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174090066	174090066	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr4:174090066C>T	ENST00000265000.4	+	1	163	c.80C>T	c.(79-81)tCc>tTc	p.S27F	RP11-10K16.1_ENST00000510523.1_RNA|GALNT7_ENST00000512285.1_Missense_Mutation_p.S27F|RP11-10K16.1_ENST00000499322.2_RNA|RP11-10K16.1_ENST00000500914.2_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	27					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CTCTGGTCTTCCCTGACCCCG	0.642000													6	28					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20920866	20920866	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr22:20920866C>T	ENST00000263205.7	+	7	872	c.803C>T	c.(802-804)cCa>cTa	p.P268L	MED15_ENST00000406969.1_Missense_Mutation_p.P242L|MED15_ENST00000425759.2_Missense_Mutation_p.P157L|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P197L|MED15_ENST00000541476.1_Missense_Mutation_p.P242L|MED15_ENST00000292733.7_Missense_Mutation_p.P268L|MED15_ENST00000542773.1_Missense_Mutation_p.P73L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	268	Pro-rich.			Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGGCCCAGCCACCAATTCAG	0.632000													38	62					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498387	106498387	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:106498387G>T	ENST00000233154.4	+	4	1272	c.830G>T	c.(829-831)aGc>aTc	p.S277I	NCK2_ENST00000393349.2_Missense_Mutation_p.S277I|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	277					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CCCTCGTCCAGCGGGCGCTTC	0.677000													21	46					4.54149e-19	6.73208e-19	1	1	0
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000325590.5_Silent_p.D529D|AMPH_ENST00000428293.2_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607000													12	46					0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10134636	10134636	+	Missense_Mutation	SNP	G	G	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr12:10134636G>T	ENST00000304361.4	+	5	731	c.549G>T	c.(547-549)caG>caT	p.Q183H	CLEC12A_ENST00000350667.4_Missense_Mutation_p.Q150H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.Q193H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.Q183H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	183	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TAAAATCCCAGAGTAGATCAT	0.343000													11	31					0.00829132	0.00874231	1	1	0
MYH8	4626	broad.mit.edu	37	17	10300290	10300290	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr17:10300290G>C	ENST00000403437.2	-	31	4286	c.4192C>G	c.(4192-4194)Cag>Gag	p.Q1398E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1398					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAGGCGCTGGGCCAACTTT	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				16	45					0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135184159	135184159	+	Missense_Mutation	SNP	C	C	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:135184159C>T	ENST00000368547.3	-	2	546	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	64					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GTCAATCAGGCCATCGCAAAG	0.567000													7	36					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873137	55873137	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr11:55873137C>A	ENST00000313503.1	+	1	619	c.619C>A	c.(619-621)Ctg>Atg	p.L207M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGGTTCCACCCTGATGGTGTC	0.388000										HNSCC(53;0.14)			39	109					1.60099e-16	2.27937e-16	1	1	0
PIK3CB	5291	broad.mit.edu	37	3	138375036	138375036	+	Nonsense_Mutation	SNP	A	A	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:138375036A>T	ENST00000477593.1	-	22	3096	c.3023T>A	c.(3022-3024)tTg>tAg	p.L1008*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.L1008*|PIK3CB_ENST00000544716.1_Nonsense_Mutation_p.L459*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1008	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCCTGCAGTCAACATCAGCGC	0.448000													13	41					0	0	1	0	0
RAB18	22931	broad.mit.edu	37	10	27821445	27821445	+	Missense_Mutation	SNP	G	G	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr10:27821445G>C	ENST00000356940.6	+	4	298	c.196G>C	c.(196-198)Ggt>Cgt	p.G66R	RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Intron|RAB18_ENST00000535776.1_Intron	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	66					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GGATACTGCTGGTCAAGAGAG	0.279000													17	69					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846468	230846468	+	Silent	SNP	G	G	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:230846468G>A	ENST00000366667.4	-	2	343	c.129C>T	c.(127-129)ctC>ctT	p.L43L	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	43			L -> F (associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGTGGATGACGAGGTGGAAGG	0.607000													11	73					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28513742	28513742	+	Silent	SNP	G	G	T	rs139078765		TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:28513742G>T	ENST00000261609.7	-	12	1575	c.1467C>A	c.(1465-1467)ggC>ggA	p.G489G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	489					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGAGGCAAGGCCTTGGACCA	0.488000													9	24					2.62144e-13	3.59023e-13	1	1	0
VPS18	57617	broad.mit.edu	37	15	41191514	41191514	+	Missense_Mutation	SNP	A	A	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr15:41191514A>T	ENST00000220509.5	+	4	837	c.498A>T	c.(496-498)caA>caT	p.Q166H	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	166					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGACTGCCCAAGGCCACATCT	0.597000													20	72					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75862069	75862069	+	Missense_Mutation	SNP	C	C	A			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr6:75862069C>A	ENST00000322507.8	-	18	4004	c.3695G>T	c.(3694-3696)gGc>gTc	p.G1232V	COL12A1_ENST00000416123.2_Missense_Mutation_p.G1232V|COL12A1_ENST00000483888.2_Missense_Mutation_p.G1232V|COL12A1_ENST00000345356.6_Missense_Mutation_p.G68V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1232	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTTTTGGGGCCAATGTCAAA	0.423000													10	26					0.00829132	0.00874231	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203786224	203786225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr1:203786224_203786225insT	ENST00000545588.1	+	2	3853_3854	c.26_27insT	c.(25-27)tttfs	p.F9fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.F9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	9							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGACTGCTATTTTTTTTTCT	0.371													7	96	---	---	---	---					
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													7	189	---	---	---	---					
HTR3D	200909	broad.mit.edu	37	3	183756230	183756230	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr3:183756230delT	ENST00000382489.3	+	7	953	c.953delT	c.(952-954)ggfs	p.V318fs	HTR3D_ENST00000428798.2_Frame_Shift_Del_p.V268fs|HTR3D_ENST00000334128.2_Frame_Shift_Del_p.V143fs|HTR3D_ENST00000453435.1_Frame_Shift_Del_p.V97fs	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	318						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCCTGATGGTGGGCAGCCTG	0.622													29	99	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													5	4	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	3	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312													4	9	---	---	---	---					
NKX2-1	7080	broad.mit.edu	37	14	36986889	36986891	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:36986889_36986891delCCG	ENST00000518149.1	-	3	1313_1315	c.708_710delCGG	c.(706-711)ggg>gg	p.GG240del	NKX2-1_ENST00000522719.2_In_Frame_Del_p.GG240del|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_In_Frame_Del_p.GG270del|NKX2-1_ENST00000498187.2_In_Frame_Del_p.GG240del			P43699	NKX21_HUMAN	NK2 homeobox 1	240	Poly-Gly.				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		cccgccgcccccgccgccgccgc	0.690			A		NSCLC								2	4	---	---	---	---					
GTF2A1	2957	broad.mit.edu	37	14	81670442	81670442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr14:81670442delC	ENST00000553612.1	-	3	542	c.139delG	c.(139-141)aafs	p.E47fs	GTF2A1_ENST00000434192.2_Frame_Shift_Del_p.E8fs	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	47					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		AGTTTGTTTTCCCATAACTAA	0.373													23	37	---	---	---	---					
ZMYND8	23613	broad.mit.edu	37	20	45912347	45912347	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chr20:45912347delG	ENST00000311275.7	-	9	1043	c.790delC	c.(790-792)aafs	p.Q264fs	ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.Q284fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.Q264fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.Q259fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.Q259fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.Q291fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.Q264fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.Q201fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.Q259fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.Q259fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.Q284fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.Q264fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.Q284fs			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	264							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTCGTTTTTGGCAAGCAGCT	0.403													10	45	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53563335	53563339	+	Splice_Site	DEL	CCTCA	CCTCA	-			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrX:53563335_53563339delCCTCA	ENST00000342160.3	-	78	12883		c.e78+1		HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATGCCTCATCCTCACCTGACTGAC	0.517													12	56	---	---	---	---					
PCDH11Y	83259	broad.mit.edu	37	Y	5605378	5605378	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-8174-01A-11D-2284-08	TCGA-97-8174-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98fc13e8-e085-4b17-95a1-aa1e6de78c22	72d61943-7241-49c7-a7e2-6ef449b68aea	g.chrY:5605378delG	ENST00000215473.6	+	6	3418	c.3418delG	c.(3418-3420)gcfs	p.G1140fs				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1140					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCATCTATGGCCATTCTGA	0.488													36	13	---	---	---	---					
